| 释义 |
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 |