An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

Descriptor ID	D005953
MeSH Number(s)	C16.320.565.202.449.448 C18.452.648.202.449.448
Concept/Terms	Glycogen Storage Disease Type I Glycogen Storage Disease Type I Gierke Disease Disease, Gierke Gierke's Disease Disease, Gierke's Gierkes Disease Glucose-6-Phosphatase Deficiency Deficiencies, Glucose-6-Phosphatase Deficiency, Glucose-6-Phosphatase Glucose 6 Phosphatase Deficiency Glucose-6-Phosphatase Deficiencies Glycogen Storage Disease 1 (GSD I) Glycogenosis 1 Hepatorenal Glycogen Storage Disease von Gierke Disease Disease, von Gierke von Gierke's Disease Disease, von Gierke's von Gierkes Disease Deficiency, Glucosephosphatase Deficiencies, Glucosephosphatase Glucosephosphatase Deficiencies Glucosephosphatase Deficiency

Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type I".

Below are MeSH descriptors whose meaning is related to "Glycogen Storage Disease Type I".

Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type I".