Glycogen Storage Disease IA
Von Gierke Disease

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypertriglyceridemia circulatory 100 % 8273986 2014-02-05
Hepatomegaly digestive 100 % 8273986 2014-02-05
Increased blood gammaglutamyltransferase circulatory 93 % 8273986 2014-02-05
Short stature skeletal 90 % 8273986 2014-02-05
Anemia circulatory 81 % 8273986 2014-02-05
Hypercholesterolemia circulatory 76 % 8273986 2014-02-05
Cancer digestive 75 % 8273986 2014-02-05
Kidney Calcifications urinary 67 % 8273986 2014-02-05
Increased alkaline phosphatase skeletal 61 % 8273986 2014-02-05
Increased blood transaminase circulatory 58 % 8273986 2014-02-05
Anemia circulatory 42 % 22678084 2014-02-05
Proteinuria urinary 33 % 8273986 2014-02-05
Hepatocellular adenomas digestive 31 % 22678084 2014-02-05
Cancer digestive 31 % 22678084 2014-02-05
Microalbuminuria urinary 17 % 8273986 2014-02-05



List of references:


Glycogen storage disease in adults.
G M Talente, R A Coleman, C Alter, L Baker, B I Brown, R A Cannon, Y T Chen, J F Crigler, P Ferreira, J C Haworth, G E Herman, R M Issenman, J P Keating, R Linde, T F Roe, B Senior, J I Wolfsdorf,

To identify complications amenable to prevention in adults with glycogen storage disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors.

Annals of internal medicine - Feb 1994



Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.
David Q Wang, Caroline T Carreras, Laurie M Fiske, Stephanie Austin, Danielle Boree, Priya S Kishnani, David A Weinstein,

The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.

Genetics in medicine : official journal of the American College of Medical Genetics - Sep 2012