glycogen storage disease VIII

glycogen storage disease VIII

Hepatic phosphorylase kinase deficiency Metabolic disease An X-linked metabolic disorder, caused by a deficiency of liver phosphorylase kinase; GSD VIII is the mildest glycogen storage disease Clinical Hepatomegaly, growth retardation, ↑ ALT, ↑ AST, ↑ cholesterol, ↑ TGs, fasting hyperketosis; with age, clinical and biochemical abnormalities disappear; most adults are asymptomatic
Mentioned in ?
Full browser ?