Glycogen storage disease type I history and symptoms: Difference between revisions
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{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
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==Overview== | ==Overview== | ||
The presentation of GSD type 1 may vary depending on the age of the patients. Glycogen storage disease type 1 commonly presents in [[infancy]] period (particularly age 3 - 6 months) with protruded [[abdomen]] due to [[hepatomegaly]]. Neonates presents rarely with [[hypoglycemia]] and [[lactic acidosis]]. | |||
==History and Symptoms== | ==History and Symptoms== | ||
The presentation of GSD type 1 may vary depending on the age of the patients.<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> | |||
*Presenting symptoms in [[neonatal]] period includes [[hypoglycemia]] and [[lactic acidosis]]. | |||
*Patients presents commonly in [[infancy]] period (particularly 3 - 6 months) with [[hepatomegaly]] and signs and symptoms of [[hypoglycemia]]. | |||
===History=== | ===History=== | ||
Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):<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><ref name="pmid17552001">{{cite journal |vauthors=Ozen H |title=Glycogen storage diseases: new perspectives |journal=World J. Gastroenterol. |volume=13 |issue=18 |pages=2541–53 |year=2007 |pmid=17552001 |pmc=4146814 |doi= |url=}}</ref> | Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):<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><ref name="pmid17552001">{{cite journal |vauthors=Ozen H |title=Glycogen storage diseases: new perspectives |journal=World J. Gastroenterol. |volume=13 |issue=18 |pages=2541–53 |year=2007 |pmid=17552001 |pmc=4146814 |doi= |url=}}</ref> | ||
*Seizures or other manifestations of severe fasting hypoglycemia | *[[Seizures]] or other manifestations of severe fasting [[hypoglycemia]] | ||
*Hepatomegaly with abdominal protuberance | *[[Hepatomegaly]] with [[abdominal]] protuberance | ||
*Hyperventilation and apparent respiratory distress due to metabolic acidosis | *[[Hyperventilation]] and apparent [[respiratory distress]] due to [[metabolic acidosis]] | ||
*Episodes of vomiting due to metabolic acidosis, often precipitated by a minor illness and accompanied by hypoglycemia | *Episodes of [[vomiting]] due to [[metabolic acidosis]], often precipitated by a minor [[illness]] and accompanied by [[hypoglycemia]] | ||
===Symptoms=== | ===Symptoms=== | ||
====Common symptoms==== | ====Common symptoms==== | ||
Glycogen storage disease type 1 commonly presents in [[infancy]] period (particularly age 3 - 6 months). Symptoms include:<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="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="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> | |||
*Protruded [[abdomen]] due to [[hepatomegaly]] | |||
*Protruded abdomen | *Symptoms of acute [[metabolic]] derangement due to [[vomiting]], [[diarrhea]], and [[Infection|infections]] | ||
*Symptoms of acute metabolic derangement due to vomiting, diarrhea, and infections | *[[Failure to thrive]] | ||
*Failure to thrive | *[[Growth retardation]] | ||
*Recurrent infections (particularly in GSD Ib patients) | *Recurrent [[infections]] (particularly in GSD Ib patients) due to [[neutropenia]] and impaired [[neutrophil]] functions | ||
*Muscular hypotonia | *[[Muscular]] [[hypotonia]] | ||
*Delayed psychomotor development | *Delayed psychomotor development | ||
* | *Frequent [[lethargy]] | ||
*Difficult [[arousal]] from overnight sleep | |||
*[[Tremors]] | |||
*Overwhelming [[hunger]] | |||
====Less common symptoms==== | ====Less common symptoms==== | ||
The less common symptoms of glycogen storage disease type 1 include:<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> | The less common symptoms of glycogen storage disease type 1 include:<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="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="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> | ||
*Tremors | *Neonatal [[hypoglycemia]] | ||
*Irritability | **[[Seizure|Seizures]] | ||
*Cyanosis | **[[Tremor|Tremors]] | ||
*Apnea | **[[Irritability]] | ||
*Coma | **[[Cyanosis]] | ||
*Fatigue | **[[Apnea]] | ||
**[[Coma]] | |||
**[[Fatigue]] | |||
*[[Lactic acidosis]] | |||
==References== | ==References== | ||
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[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 17:49, 30 November 2017
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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]
Overview
The presentation of GSD type 1 may vary depending on the age of the patients. Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months) with protruded abdomen due to hepatomegaly. Neonates presents rarely with hypoglycemia and lactic acidosis.
History and Symptoms
The presentation of GSD type 1 may vary depending on the age of the patients.[1]
- Presenting symptoms in neonatal period includes hypoglycemia and lactic acidosis.
- Patients presents commonly in infancy period (particularly 3 - 6 months) with hepatomegaly and signs and symptoms of hypoglycemia.
History
Patients with glycogen storage disease type I may have a positive history of (usually by two years of age):[2][3]
- Seizures or other manifestations of severe fasting hypoglycemia
- Hepatomegaly with abdominal protuberance
- Hyperventilation and apparent respiratory distress due to metabolic acidosis
- Episodes of vomiting due to metabolic acidosis, often precipitated by a minor illness and accompanied by hypoglycemia
Symptoms
Common symptoms
Glycogen storage disease type 1 commonly presents in infancy period (particularly age 3 - 6 months). Symptoms include:[1][3][4]
- Protruded abdomen due to hepatomegaly
- Symptoms of acute metabolic derangement due to vomiting, diarrhea, and infections
- Failure to thrive
- Growth retardation
- Recurrent infections (particularly in GSD Ib patients) due to neutropenia and impaired neutrophil functions
- Muscular hypotonia
- Delayed psychomotor development
- Frequent lethargy
- Difficult arousal from overnight sleep
- Tremors
- Overwhelming hunger
Less common symptoms
The less common symptoms of glycogen storage disease type 1 include:[1][3][4]
References
- ↑ 1.0 1.1 1.2 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ 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/
- ↑ 3.0 3.1 3.2 Ozen H (2007). "Glycogen storage diseases: new perspectives". World J. Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ 4.0 4.1 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.