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Glycogen storage disease I

rare

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

Identifiers
MONDO:0002413 Orphanet:364
Part of
Disorder of glycogen metabolism
Also known as
G6P deficiency · glycogen storage disease due to G6P deficiency · glycogen storage disease due to glucose-6-phosphatase deficiency · glycogen storage disease type 1 · Glycogen Storage Disease Type I

Subtypes

All diseases Rare only
Disease Subtypes
Glycogen storage disease type 1 due to SLC37A4 mutation 1
Glycogen storage disease Id
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Rare disease

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