Glycogen storage disease type I causes

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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

Glycogen storage disease type 1 is an autosomal recessive disorder. Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme.G6PC gene mutation responsible for the glucose-6-phosphatase enzyme deficiency is located on chromosome 17q21. Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. SLC37A4 gene mutation responsible for the microsomal glucose-6-phosphate transporter is located on chromosome 11q23.

Glycogen storage disease type 1 is an autosomal recessive disorder.^[1]^[2]^[3]
Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. G6PC gene mutation responsible for the glucose-6-phosphatase enzyme deficiency is located on chromosome 17q21.
Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. SLC37A4 gene mutation responsible for the microsomal glucose-6-phosphate transporter is located on chromosome 11q23.

↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
↑ Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.