Glycogen storage disease type III laboratory findings: Difference between revisions
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{{Glycogen storage disease type III}} | {{Glycogen storage disease type III}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Anmol}} | ||
==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include [[ketotic hypoglycemia]], increased [[creatine kinase]], [[hyperlipidemia]], and elevated [[liver]] [[transaminases]]. | |||
Laboratory findings consistent with the diagnosis of | |||
[ | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
*Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include:<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> | *Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include:<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><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> | ||
**Hypoglycemia | **[[Hypoglycemia]] | ||
**Ketosis | **[[Ketosis]] | ||
**Increased | **Increased [[creatine kinase]] (CK) | ||
**Hyperlipidemia | **[[Hyperlipidemia]] | ||
***Hypercholesterolemia | ***[[Hypercholesterolemia]] | ||
***Hypertriglyceridemia | ***[[Hypertriglyceridemia]] | ||
**Elevated liver transaminases | **Elevated [[liver]] [[transaminases]] | ||
*** | ***Elevated [[aspartate aminotransferase]] (AST) [>500 - 1000 IU] | ||
*** | ***Elevated [[alanine aminotransferase]] (ALT) [>500 - 1000 IU] | ||
==References== | ==References== |
Revision as of 16:14, 22 December 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
Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include ketotic hypoglycemia, increased creatine kinase, hyperlipidemia, and elevated liver transaminases.
Laboratory Findings
- Laboratory findings consistent with the diagnosis of glycogen storage disease type 3 include:[1][2]
- Hypoglycemia
- Ketosis
- Increased creatine kinase (CK)
- Hyperlipidemia
- Elevated liver transaminases
- Elevated aspartate aminotransferase (AST) [>500 - 1000 IU]
- Elevated alanine aminotransferase (ALT) [>500 - 1000 IU]
References
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ 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/