Glycogen Storage Disease I

Alternative Names

  • GSD I
  • GSD1
  • Glycogen Storage Disease Ia
  • GSD1A
  • Von Gierke Disease
  • Hepatorenal Form of Glycogen Storage Disease
  • Glucose-6-Phosphatase Deficiency
  • Hepatorenal Glycogenosis
  • Glucose-6-Phosphatase, Catalytic
  • G6PC
  • Glucose-6-Phosphatase, Catalytic, 1
  • G6PC1
  • G6PT
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

232200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q21.31

Description

Glycogen storage diseases (GSDs) are a group of inherited inborn errors of metabolism characterized by the deficiency of any one of the enzymes involved in glycogen metabolism, and subsequent build-up of excessive levels of glycogen in the body tissues. GSD I is caused by deficiency of the glucose 6 phosphatase or glucose 6 phosphate translocase enzyme. The cardinal features of this disorder are post absorptive hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia. 

About 25% of all GSD cases are due to GSD I. Worldwide, the incidence of this disorder is estimated at about 1 affected patient in every 100,000 to 200,000 live births.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
232200.1Saudi ArabiaFemaleNoYes Increased sarcoplasmic glycogen; Increa...NM_000151.3:c.247C>T, NM_000152.4:c.266G>AHomozygousAutosomal, RecessiveMonies et al. 2017
232200.2PalestineUnknown Increased sarcoplasmic glycogen; Increa...NM_000151.3:c.247C>THomozygousAutosomal, RecessiveParvari et al. 1997
232200.3PalestineUnknown Increased sarcoplasmic glycogen; Increa...NM_000151.3:c.497T>GHomozygousAutosomal, RecessiveParvari et al. 1997
232200.4PalestineUnknown Increased sarcoplasmic glycogen; Increa...NM_000151.3:c.497T>GHomozygousAutosomal, RecessiveParvari et al. 1997
232200.5United Arab EmiratesUnknownYes Hypoglycemia; Hepatosplenomegaly; Incr...NM_001270397.1:c.352G>CHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016; Ali et al. 2011
232200.6.1LebanonMaleNoNo Increased sarcoplasmic glycogen; Increa...NM_000151.3:c.209G>AHeterozygousAutosomal, RecessiveTrioche et al, 1999 Lebanese father, Fre...

Other Reports

Bahrain

Al-Arrayed (2006) indicated that glycogen storage disease occurs in Bahrain frequently. However, further studies are needed to determine its prevalence. [Al-Arrayed SS. Personal communication, Dubai, 2006]

Jordan

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006. Only one cases of glycogen storage disease was observed in 2-year-old Jordanian boy who was resident of the UAE.

Oman

Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among the 82 patients, three were diagnosed with GSD type I [CTGA Database Editor's note: Computed annual incidence rate is 2.4/100,000].

Saudi Arabia

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Among GSD cases in this cohort, 4 cases from 2 families were found to have GSD IA.  The estimated incidence of GSD IA in this cohort was 2 in 100,000 live births. 

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