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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01939 Glycogen storage disease type I
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01939 Glycogen storage disease type I
Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K
Title
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
