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__NOTOC__
__NOTOC__
{{Glycogen storage disease}}


{{CMG}}; {{AE}} {{Anmol}}
{{CMG}}; {{AE}} {{Anmol}}
==Glycogen storage disease==


{|
==Tables==
! colspan="15" style="background:#4479BA; color: #FFFFFF;" align="center" + | Differentiating Glycogen Storage Diseases
{| class="wikitable"
|-
|+
! colspan="3" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Glycogen storage disease
!Diagnosis
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Enzyme deficiency
!Lab findings
! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Genetics
!
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |History and symptoms
!
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical examination
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory findings
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Imaging
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gene mutation
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Inheritance
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Chromosome
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypoglycemia
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypotonia
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hepatomegaly
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Elevated CK
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Cardiomegaly
|-
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type I|'''Glycogen storage disease type I''']]<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403  }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001  }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue=  | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942  }} </ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/</ref>
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Von Gierke's disease|'''Von Gierke's disease''']]
| style="background:#DCDCDC;" align="center" + |'''GSD type Ia'''
| style="background:#F5F5F5;" align="center" + |[[Glucose-6-phosphatase]]
| style="background:#F5F5F5;" align="center" + |[[G6PC]] [[gene mutation]] 
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |17q21
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | -
| rowspan="2" style="background:#F5F5F5;" align="center" + | -
| rowspan="2" style="background:#F5F5F5;" + |
* [[Lactic acidosis]]
* [[Hyperlipidemia]]
* [[Hyperuricemia]]
|-
| style="background:#DCDCDC;" align="center" + |'''GSD type Ib'''
| style="background:#F5F5F5;" align="center" + | [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]
| style="background:#F5F5F5;" align="center" + | [[SLC37A4]] [[gene mutation]]
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |11q23
|-
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type II|'''Glycogen storage disease type II''']]<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref><ref name="pmid17915568">{{cite journal| author=Di Rocco M, Buzzi D, Tarò M| title=Glycogen storage disease type II: clinical overview. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 42-4 | pmid=17915568 | doi= | pmc=2949314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915568  }} </ref><ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883  }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283  }} </ref><ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430  }} </ref><ref name="pmid2111708">{{cite journal| author=Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R| title=Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. | journal=DNA Cell Biol | year= 1990 | volume= 9 | issue= 2 | pages= 85-94 | pmid=2111708 | doi=10.1089/dna.1990.9.85 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2111708  }} </ref><ref name="pmid3049072">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA| title=Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. | journal=EMBO J | year= 1988 | volume= 7 | issue= 6 | pages= 1697-704 | pmid=3049072 | doi= | pmc=457155 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3049072  }} </ref><ref name="pmid2268276">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA| title=Characterization of the human lysosomal alpha-glucosidase gene. | journal=Biochem J | year= 1990 | volume= 272 | issue= 2 | pages= 493-7 | pmid=2268276 | doi= | pmc=1149727 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2268276  }} </ref><ref name="pmid8786092">{{cite journal| author=Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K| title=Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. | journal=Hum Genet | year= 1996 | volume= 97 | issue= 3 | pages= 404-6 | pmid=8786092 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8786092  }} </ref>
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Pompe disease|'''Pompe disease''']]
| style="background:#DCDCDC;" align="center" + |'''Infantile onset'''
| rowspan="2" style="background:#F5F5F5;" align="center" + |[[Acid alpha-glucosidase]]
| rowspan="2" style="background:#F5F5F5;" align="center" + |GAA gene
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| rowspan="2" style="background:#F5F5F5;" align="center" + |17q25
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" + |
* Elevated [[LDH]]
* Elevated [[liver]] aminotransferases
* Elevated urinary glc4
|-
| style="background:#DCDCDC;" align="center" + |'''Late onset'''
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +/-
|-
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type III|'''Glycogen storage disease type III''']]<ref name="pmid8755644">{{cite journal| author=Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT| title=Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. | journal=J Clin Invest | year= 1996 | volume= 98 | issue= 2 | pages= 352-7 | pmid=8755644 | doi=10.1172/JCI118799 | pmc=507437 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8755644  }} </ref><ref name="pmid2295969">{{cite journal| author=Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT| title=Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. | journal=J Pediatr | year= 1990 | volume= 116 | issue= 1 | pages= 95-100 | pmid=2295969 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2295969  }} </ref><ref name="pmid19834502">{{cite journal| author=Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T et al.| title=Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. | journal=J Hum Genet | year= 2009 | volume= 54 | issue= 11 | pages= 681-6 | pmid=19834502 | doi=10.1038/jhg.2009.100 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19834502  }} </ref><ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref><ref name="pmid12618563">{{cite journal| author=Wolfsdorf JI, Weinstein DA| title=Glycogen storage diseases. | journal=Rev Endocr Metab Disord | year= 2003 | volume= 4 | issue= 1 | pages= 95-102 | pmid=12618563 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12618563  }} </ref>
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Cori disease|'''Cori disease''']]
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIa'''
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in muscle and liver)
| rowspan="2" style="background:#F5F5F5;" align="center" + |AGL [[gene mutation]] 
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| rowspan="2" style="background:#F5F5F5;" align="center" + |1p21
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" + |
* [[Ketosis]]
* [[Hyperlipidemia]]
* Elevated liver aminotransferases
|-
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIb'''
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in liver only)
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
|-
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type IV|'''Glycogen storage disease type IV''']]<ref name="pmid15452297">{{cite journal| author=Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA et al.| title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). | journal=Neurology | year= 2004 | volume= 63 | issue= 6 | pages= 1053-8 | pmid=15452297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15452297  }} </ref><ref name="pmid17915577">{{cite journal| author=Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S| title=Neuromuscular forms of glycogen branching enzyme deficiency. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 75-8 | pmid=17915577 | doi= | pmc=2949312 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915577  }} </ref><ref name="pmid5229990">{{cite journal| author=Brown BI, Brown DH| title=Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. | journal=Proc Natl Acad Sci U S A | year= 1966 | volume= 56 | issue= 2 | pages= 725-9 | pmid=5229990 | doi= | pmc=224432 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5229990  }} </ref><ref name="pmid8830177">{{cite journal| author=McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P et al.| title=Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 1 | pages= 51-8 | pmid=8830177 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8830177  }} </ref><ref>Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/</ref>
| colspan="2" style="background:#DCDCDC;" align="center" + |[[Andersen's disease|'''Andersen's disease''']]
| style="background:#F5F5F5;" align="center" + |Branching enzyme
| style="background:#F5F5F5;" align="center" + | GBE1 gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |3p12
| style="background:#F5F5F5;" align="center" + | +/-
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
|-
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type V|'''Glycogen storage disease type V''']]<ref name="pmid24540673">{{cite journal| author=McARDLE B| title=Myopathy due to a defect in muscle glycogen breakdown. | journal=Clin Sci | year= 1951 | volume= 10 | issue= 1 | pages= 13-35 | pmid=24540673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24540673  }} </ref><ref name="pmid14442994">{{cite journal| author=SCHMID R, MAHLER R| title=Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. | journal=J Clin Invest | year= 1959 | volume= 38 | issue=  | pages= 2044-58 | pmid=14442994 | doi=10.1172/JCI103983 | pmc=441792 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14442994  }} </ref><ref name="pmid16590445">{{cite journal| author=Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K| title=A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. | journal=Proc Natl Acad Sci U S A | year= 1959 | volume= 45 | issue= 6 | pages= 791-7 | pmid=16590445 | doi= | pmc=222638 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16590445  }} </ref><ref name="pmid13733779">{{cite journal| author=PEARSON CM, RIMER DG, MOMMAERTS WF| title=A metabolic myopathy due to absence of muscle phosphorylase. | journal=Am J Med | year= 1961 | volume= 30 | issue=  | pages= 502-17 | pmid=13733779 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13733779  }} </ref><ref name="pmid4502558">{{cite journal| author=Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC| title=Acute renal failure in McArdle's disease. Report of two cases. | journal=N Engl J Med | year= 1972 | volume= 286 | issue= 23 | pages= 1237-41 | pmid=4502558 | doi=10.1056/NEJM197206082862304 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4502558  }} </ref><ref name="pmid3476861">{{cite journal| author=Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S| title=McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. | journal=Neurology | year= 1987 | volume= 37 | issue= 9 | pages= 1558-61 | pmid=3476861 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3476861  }} </ref><ref>Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/</ref>
| colspan="2" style="background:#DCDCDC;" align="center" + |[[McArdle disease|'''McArdle disease''']]
| style="background:#F5F5F5;" align="center" + |Muscle [[glycogen phosphorylase]]
| style="background:#F5F5F5;" align="center" + |PYGM gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |11q13
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* [[Myoglobinuria]], may result in [[renal failure]]
|-
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VI|'''Glycogen storage disease type VI''']]<ref name="pmid5904467">{{cite journal| author=Wallis PG, Sidbury JB, Harris RC| title=Hepatic phosphorylase defect. Studies on peripheral blood. | journal=Am J Dis Child | year= 1966 | volume= 111 | issue= 3 | pages= 278-82 | pmid=5904467 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5904467  }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922  }} </ref><ref name="pmid9529348">{{cite journal| author=Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW| title=Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 4 | pages= 785-91 | pmid=9529348 | doi= | pmc=1377030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9529348  }} </ref><ref name="pmid9536091">{{cite journal| author=Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG| title=Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. | journal=Hum Mol Genet | year= 1998 | volume= 7 | issue= 5 | pages= 865-70 | pmid=9536091 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9536091  }} </ref><ref>Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/</ref>
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Hers' disease|'''Hers' disease''']]
| style="background:#DCDCDC;" align="center" + |'''Autosomal'''
| rowspan="2" style="background:#F5F5F5;" align="center" + |Liver [[glycogen phosphorylase]]
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |14q22
| rowspan="2" style="background:#F5F5F5;" align="center" + | +/-
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | +/-
| rowspan="2" style="background:#F5F5F5;" align="center" + | +
| rowspan="2" style="background:#F5F5F5;" align="center" + | -
| rowspan="2" style="background:#F5F5F5;" align="center" + | -
| rowspan="2" style="background:#F5F5F5;" + |
* [[Hyperlipidemia]]
* Elevated liver aminotransferases
|-
| style="background:#DCDCDC;" align="center" + |'''X-linked'''
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
| style="background:#F5F5F5;" align="center" + |X
|-
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VII|'''Glycogen storage disease type VII''']]<ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225  }} </ref><ref name="pmid14339001">{{cite journal| author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M| title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | journal=Biochem Biophys Res Commun | year= 1965 | volume= 19 | issue=  | pages= 517-23 | pmid=14339001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14339001  }} </ref><ref name="pmid4228297">{{cite journal| author=Layzer RB, Rowland LP, Ranney HM| title=Muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 5 | pages= 512-23 | pmid=4228297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228297  }} </ref><ref name="pmid4228753">{{cite journal| author=Satoyoshi E, Kowa H| title=A myopathy due to glycolytic abnormality. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 3 | pages= 248-56 | pmid=4228753 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228753  }} </ref><ref name="pmid4258222">{{cite journal| author=Waterbury L, Frenkel EP| title=Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency. | journal=Blood | year= 1972 | volume= 39 | issue= 3 | pages= 415-25 | pmid=4258222 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4258222  }} </ref><ref name="pmid6444532">{{cite journal| author=Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S| title=The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | journal=Blood | year= 1980 | volume= 55 | issue= 4 | pages= 629-35 | pmid=6444532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6444532  }} </ref>
| colspan="2" style="background:#DCDCDC;" align="center" + |[[Tarui's disease|'''Tarui's disease''']]
| style="background:#F5F5F5;" align="center" + |Muscle [[phosphofructokinase]]
| style="background:#F5F5F5;" align="center" + |PFKM gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |12q13
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" + |
* [[Reticulocyte|Reticulocytosis]]
* [[Hyperuricemia]]
* [[Myoglobinuria]]
* [[Hemolytic anemia]]
|-
| colspan="2" rowspan="2" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type IX'''<ref name="pmid17689125">{{cite journal| author=Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P et al.| title=Glycogen storage disease type IX: High variability in clinical phenotype. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 88-99 | pmid=17689125 | doi=10.1016/j.ymgme.2007.06.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17689125  }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922  }} </ref><ref>Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/</ref>
| style="background:#DCDCDC;" align="center" + |'''GSD type IXa'''<ref name="pmid3859203">{{cite journal| author=Keating JP, Brown BI, White NH, DiMauro S| title=X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. | journal=Am J Dis Child | year= 1985 | volume= 139 | issue= 6 | pages= 609-13 | pmid=3859203 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3859203  }} </ref><ref name="pmid7959740">{{cite journal| author=Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J et al.| title=Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). | journal=Genomics | year= 1994 | volume= 21 | issue= 3 | pages= 620-5 | pmid=7959740 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7959740  }} </ref><ref name="pmid4518931">{{cite journal| author=Schimke RN, Zakheim RM, Corder RC, Hug G| title=Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. | journal=J Pediatr | year= 1973 | volume= 83 | issue= 6 | pages= 1031-4 | pmid=4518931 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4518931  }} </ref><ref name="pmid2303074">{{cite journal| author=Willems PJ, Gerver WJ, Berger R, Fernandes J| title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. | journal=Eur J Pediatr | year= 1990 | volume= 149 | issue= 4 | pages= 268-71 | pmid=2303074 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2303074  }} </ref><ref name="pmid9835437">{{cite journal| author=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R| title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. | journal=Eur J Pediatr | year= 1998 | volume= 157 | issue= 11 | pages= 919-23 | pmid=9835437 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9835437  }} </ref>
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver only)
| style="background:#F5F5F5;" align="center" + |[[PHKA2]] gene mutation
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
| style="background:#F5F5F5;" align="center" + |Xp22
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* [[Hyperlipidemia]]
* Elevated liver aminotransferases
* [[Hyperuricemia]]
* Fasting [[ketosis]]
|-
| style="background:#DCDCDC;" align="center" + |'''GSD type IXb'''<ref name="pmid6938920">{{cite journal| author=Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW| title=Glycogenosis due to liver and muscle phosphorylase kinase deficiency. | journal=Pediatr Res | year= 1981 | volume= 15 | issue= 4 Pt 1 | pages= 299-303 | pmid=6938920 | doi=10.1203/00006450-198104000-00002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6938920  }} </ref><ref name="pmid6422139">{{cite journal| author=Gray RG, Kumar D, Whitfield AE| title=Glycogen phosphorylase b kinase deficiency in three siblings. | journal=J Inherit Metab Dis | year= 1983 | volume= 6 | issue= 3 | pages= 107 | pmid=6422139 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6422139  }} </ref><ref name="pmid9215682">{{cite journal| author=Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS et al.| title=Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). | journal=Hum Mol Genet | year= 1997 | volume= 6 | issue= 7 | pages= 1109-15 | pmid=9215682 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9215682  }} </ref>
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver and muscle)
| style="background:#F5F5F5;" align="center" + |[[PHKB]] gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |16q12
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* [[Hyperlipidemia]]
* Elevated liver aminotransferases
|-
| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type X'''<ref name="pmid10545043">{{cite journal| author=Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ et al.| title=Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. | journal=Neuromuscul Disord | year= 1999 | volume= 9 | issue= 6-7 | pages= 399-402 | pmid=10545043 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10545043  }} </ref><ref name="pmid8447317">{{cite journal| author=Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S| title=The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. | journal=Am J Hum Genet | year= 1993 | volume= 52 | issue= 3 | pages= 472-7 | pmid=8447317 | doi= | pmc=1682163 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8447317  }} </ref><ref name="pmid2987758">{{cite journal| author=Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR| title=Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. | journal=Neurology | year= 1985 | volume= 35 | issue= 6 | pages= 828-33 | pmid=2987758 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2987758  }} </ref><ref name="pmid6262916">{{cite journal| author=DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R| title=Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. | journal=Science | year= 1981 | volume= 212 | issue= 4500 | pages= 1277-9 | pmid=6262916 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6262916  }} </ref>
| style="background:#F5F5F5;" align="center" + |[[Phosphoglycerate mutase]]
| style="background:#F5F5F5;" align="center" + |[[PGAM2]] gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |7p13
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* [[Myoglobinuria]]
* [[Gout]] (tophy)
* Severe [[coronary]] [[arteriosclerosis]]
|-
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XI'''<ref name="pmid3789777">{{cite journal| author=Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T| title=Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. | journal=Arch Dermatol | year= 1986 | volume= 122 | issue= 12 | pages= 1420-4 | pmid=3789777 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3789777  }} </ref><ref name="pmid3383424">{{cite journal| author=Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K| title=Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. | journal=Clin Chim Acta | year= 1988 | volume= 173 | issue= 1 | pages= 89-98 | pmid=3383424 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3383424  }} </ref><ref name="pmid3092644">{{cite journal| author=Maekawa M, Sudo K, Kanno T| title=Immunochemical studies on lactate dehydrogenase A subunit deficiencies. | journal=Am J Hum Genet | year= 1986 | volume= 39 | issue= 2 | pages= 232-8 | pmid=3092644 | doi= | pmc=1683931 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092644  }} </ref><ref name="pmid1999544">{{cite journal| author=Takayasu S, Fujiwara S, Waki T| title=Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. | journal=J Am Acad Dermatol | year= 1991 | volume= 24 | issue= 2 Pt 2 | pages= 339-42 | pmid=1999544 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1999544  }} </ref>
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lactate dehydrogenase A deficiency'''
| style="background:#F5F5F5;" align="center" + |[[Lactate dehydrogenase A]]
| style="background:#F5F5F5;" align="center" + |LDHA gene mutation
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |11p15
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* Muscle [[stiffness]]
* [[Lactic acidosis]]
* [[Myoglobinuria]]
* Easy [[fatigue]]
|-
|-
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XII'''<ref name="pmid2825199">{{cite journal| author=Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K| title=Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | journal=Proc Natl Acad Sci U S A | year= 1987 | volume= 84 | issue= 23 | pages= 8623-7 | pmid=2825199 | doi= | pmc=299598 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2825199  }} </ref><ref name="pmid4788792">{{cite journal| author=Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W| title=Red cell aldolase deficiency and hemolytic anemia: a new syndrome. | journal=Trans Assoc Am Physicians | year= 1973 | volume= 86 | issue=  | pages= 154-66 | pmid=4788792 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4788792  }} </ref><ref name="pmid8598869">{{cite journal| author=Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U et al.| title=Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | journal=N Engl J Med | year= 1996 | volume= 334 | issue= 17 | pages= 1100-4 | pmid=8598869 | doi=10.1056/NEJM199604253341705 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8598869  }} </ref><ref name="pmid3688035">{{cite journal| author=Hurst JA, Baraitser M, Winter RM| title=A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. | journal=Am J Med Genet | year= 1987 | volume= 28 | issue= 4 | pages= 965-70 | pmid=3688035 | doi=10.1002/ajmg.1320280423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3688035  }} </ref>
!
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Aldolase A deficiency'''
!
| style="background:#F5F5F5;" align="center" + |[[Aldolase A]]
!
| style="background:#F5F5F5;" align="center" + |ALDOA gene mutation
!
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |16p11
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* [[Hemolytic anemia]]
* [[Splenomegaly]]
|-
|-
| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIII<ref name="pmid11506403">{{cite journal| author=Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S et al.| title=Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. | journal=Ann Neurol | year= 2001 | volume= 50 | issue= 2 | pages= 202-7 | pmid=11506403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11506403  }} </ref>'''
|
| style="background:#F5F5F5;" align="center" + |Beta-enolase
|
| style="background:#F5F5F5;" align="center" + | ENO3 gene mutation
|
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
|
| style="background:#F5F5F5;" align="center" + |17p13
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
|-
|-
| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIV'''<ref name="pmid24499211">{{cite journal| author=Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S et al.| title=Multiple phenotypes in phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2014 | volume= 370 | issue= 6 | pages= 533-42 | pmid=24499211 | doi=10.1056/NEJMoa1206605 | pmc=4373661 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24499211  }} </ref><ref name="pmid19625727">{{cite journal| author=Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G et al.| title=Muscle glycogenosis due to phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2009 | volume= 361 | issue= 4 | pages= 425-7 | pmid=19625727 | doi=10.1056/NEJMc0901158 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19625727  }} </ref>
|
| style="background:#F5F5F5;" align="center" + |[[Phosphoglucomutase]] type 2
|
| style="background:#F5F5F5;" align="center" + |[[PGM1]] gene mutation
|
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
|
| style="background:#F5F5F5;" align="center" + |1p31
| style="background:#F5F5F5;" align="center" + | +/-
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* Elevated liver aminotransferases
|-
|-
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type 0'''<ref name="pmid9691087">{{cite journal| author=Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P et al.| title=Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. | journal=J Clin Invest | year= 1998 | volume= 102 | issue= 3 | pages= 507-15 | pmid=9691087 | doi=10.1172/JCI2890 | pmc=508911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9691087  }} </ref><ref name="pmid12794686">{{cite journal| author=Laberge AM, Mitchell GA, van de Werve G, Lambert M| title=Long-term follow-up of a new case of liver glycogen synthase deficiency. | journal=Am J Med Genet A | year= 2003 | volume= 120A | issue= 1 | pages= 19-22 | pmid=12794686 | doi=10.1002/ajmg.a.20110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12794686  }} </ref><ref name="pmid8831078">{{cite journal| author=Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M et al.| title=Liver glycogen synthase deficiency: a rarely diagnosed entity. | journal=Eur J Pediatr | year= 1996 | volume= 155 | issue= 7 | pages= 561-7 | pmid=8831078 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8831078  }} </ref><ref name="pmid11483824">{{cite journal| author=Rutledge SL, Atchison J, Bosshard NU, Steinmann B| title=Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. | journal=Pediatrics | year= 2001 | volume= 108 | issue= 2 | pages= 495-7 | pmid=11483824 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11483824  }} </ref>
|
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lewis' disease'''
|
| style="background:#F5F5F5;" align="center" + |Hepatic [[glycogen synthase]]
|
| style="background:#F5F5F5;" align="center" + |GYS2 gene mutation (liver)
|
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" align="center" + |12p12
| style="background:#F5F5F5;" align="center" + | +
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" align="center" + | -
| style="background:#F5F5F5;" + |
* Fasting [[hypoglycemia]] and [[ketosis]]
* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]]
|}
|}
==Interstitial Lung Disease Classification==
{{Family tree/start}}
{{Family tree| | | | | | | | | | | | | | | A01 | | | | | | | | | | | | A01=Interstitial lung disease}}
{{Family tree| | | | | | | | | | |,|-|-|-|-|^|-|-|-|-|-|-|-|-|.| |}}
{{Family tree| | | | | | | | | | B01 | | | | | | | | | | | | B02 | | | | | |B01=Lung Response:<br>Granulomatous|B02=Lung Response:<br>Alveolitis,<br>Interstitial Inflammation,<br>and Fibrosis }}
{{Family tree| | | | | | |,|-|-|-|^|-|-|-|.| | | | | | | | | |!| | | | | | | | | | |}}
{{Family tree| | | | | | C01 | | | | | | C02 | | | | | | | | |!| | | | | | | | | | | |C01=Known|C02=Idiopathic (Unknown)}}
{{Family tree| | |,|-|-|-|(| | | |,|-|-|-|+|-|-|-|v|-|-|-|.| |!| | | | | | | | | | |}}
{{Family tree| | D01 | | D02 | | D03 | | D04 | | D05 | | D06 |!| | | | | | | | | | |D01=Inorganic dusts|D02=Hypersensitivity pneumonitis (organic dusts)|D03=Sarcoidosis||D04=Lymphomatoid granulomatosis|D05=Granulomatous vasculitides|D06=Bronchocentric granulomatosis}}
{{Family tree| | |)|-|-|-|.| | | | | | | | | |,|-|^|-|.| | | |!| | | | | | | | | | |}}
{{Family tree| | E01 | | E02 | | | | | | | | D07 | | D08 | | |!| | | | | | | | | | |E01=Beryllium|E02=Silica|D07=Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome)|D08=Granulomatosis with polyangiitis (Wegener)}}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | |}}
{{Family tree| | | | | | | | | | | | | | |,|-|-|-|-|-|-|-|-|-|(| | | | | | | | | | | | |}}
{{Family tree| | | | | | | | | | | | | | F01 | | | | | | | | F02 | | | | | | | | | | | | | | F01=Known cause|F02=Idiopathic (Unknown)}}
{{Family tree|,|-|v|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|.| | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree|!| G01 | | G02 | | G03 | | G05 | | G04 | | | | |!| | | | | | | | | | | | | | | | | | | G01=Drug-induced pulmonary toxicity|G02=Radiation-induced lung injury|G03=Aspiration pneumonia|G05=Residual of acute respiratory distress syndrome|G04=Smoking-related}}
{{Family tree|!| | | | | | | | | | | | | | | | | |!| | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree|!| | | | | | | | | |,|-|-|-|v|-|-|-|(| | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree| G06 | | | | | | | G07 | | G08 | | G09 | | | | |!| | | | | | | | | | | | | | | | | | |G06=Occupational and environmental exposure|G07=Desquamative interstitial pneumonia|G08=Respiratory bronchiolitis–associated interstitial lung disease|G09=Pulmonary Langerhans cell granulomatosis|}}
{{Family tree| | |!| | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree| | |)|-|-|-|v|-|-|-|.| | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree| | I01 | | I02 | | I03 | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | I01=Inhaled inorganic dust|I02=Inhaled organic dusts|I03=Inhaled agents other than inorganic or organic dusts|}}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | |,|-|+|-|v|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|.| }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | H01 |!| H02 | | H03 | | H04 | | H05 | | H06 |H01=Pulmonary alveolar proteinosis|H02=Lymphocytic infiltrative disorders<br>(lymphocytic interstitial pneumonitis<br>associated with connective tissue disease)|H03=Eosinophilic pneumonias|H04=Lymphangioleiomyomatosis|H05=Amyloidosis|H06=Pulmonary hemorrhage syndromes}}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | |!| }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | |,|-|^|-|v|-|-|-|v|-|-|-|v|-|-|-|.| | | |!| | }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | H07 | | H08 | | H09 | | H10 | | H11 | | |!| |H07=Idiopathic interstitial pneumonias|H08=Connective tissue diseases|H09=Inherited diseases|H10=Gastrointestinal or liver diseases|H11=Graft-versus-host disease}}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | |!| | |!| | | |!| | | |!| | | |!| | | |!| }}
{{Family tree| | | | | | | | | | | | | | | |,|-|-|v|-|-|-|-|(| | |!| | | |!| | | |!| | | |!| | | |!| }}
{{Family tree| | | | | | | | | | | | | | I04 | | I05 | | I06 | | |!| | | |!| | | |!| | | |!| | | |!|I04=Major idiopathic interstitial pneumonias|I05=Rare idiopathic interstitial pneumonias|I06=Unclassifiable idiopathic interstitial pneumonias}}
{{Family tree| | | | | | | | | | | | | | |!| | | |!| | | | | | | |!| | | |!| | | |!| | | |!| | | |!|}}
{{Family tree|boxstyle=text-align: left; | | | | | | | | | | | | | J01 | | J02 | | | | | | J07 | | J08 | | J09 | | J10 | | J11 |J01=• Idiopathic pulmonary fibrosis<br>• Idiopathic nonspecific interstitial pneumonia<br>• Respiratory bronchiolitis-interstitial lung disease<br>• Desquamative interstitial pneumonia<br>• Cryptogenic organising pneumonia<br>• Acute interstitial pneumonia<br>|J02=• Idiopathic lymphoid interstitial pneumonia<br>• Idiopathic pleuroparenchymal fibroelastosis<br>|J07=• Systemic lupus erythematosus<br>• Rheumatoid arthritis<br>• Ankylosing spondylitis<br>• Systemic sclerosis<br>• Sjögren syndrome<br>• Polymyositisdermatomyositis<br>|J08=• Tuberous sclerosis<br>• Neurofibromatosis<br>• Niemann-Pick disease<br>• Gaucher disease<br>• Hermansky-Pudlak syndrome<br>|J09=• Crohn disease<br>• Primary biliary cirrhosis<br>• Chronic active hepatitis<br>• Ulcerative colitis<br>|J10=• Bone marrow transplantation<br>• Solid organ transplantation<br>|J11=• Goodpasture syndrome<br>• Idiopathic pulmonary hemosiderosis<br>• Isolated pulmonary capillaritis
|}}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree/end}}


==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 17:32, 14 January 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Tables

Diagnosis Lab findings

References

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