Glycogen storage disease type I

Definition:

Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this disorder, Ia, Ib, Ic, and Id. GSD-Ia is caused by mutations in the G6Pase gene. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. GSD-Ib, Ic, and Id result from deficient activity of the phosphate/ pyrophosphate transporter of G6Pase complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia.

References:

[1]. B Annabi, et al. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet. 1998 Feb;62(2):400-5. [Content Brief]

[2]. C D Fenske, et al. Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. J Med Genet. 1998 Apr;35(4):269-72. [Content Brief]

[3]. I Gerin, et al. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett. 1997 Dec 15;419(2-3):235-8. [Content Brief]

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