| 单词 | glycogen storage disease viii |
| 释义 | glycogen storage disease VIIIglycogen storage disease VIIIHepatic 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 |
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