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glycogen storage disease VIII |
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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 Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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