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Definition

A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.

Acronym

GSD9A

Synonyms

Glycogen storage disease IXa
Glycogen storage disease IXa1
Glycogen storage disease IXa2
Glycogen storage disease VIa
Glycogen storage disease VIII
GSD9A1
GSD9A2
GSD-IXa
GSD-VIa
GSD-VIII
Hepatic phosphorylase kinase deficiency
XLG
X-linked liver glycogenosis
X-linked liver glycogenosis type I
X-linked liver glycogenosis type II

Keywords

Glycogen storage disease