Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency (Q100846): Difference between revisions
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Revision as of 17:37, 16 August 2026
Glycogen storage disease due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. Patients have marked hepatomegaly and mild muscular hypotonia. Hypoglycaemia may occur only after prolonged fasting. These symptoms improve with age and adults are generally asymptomatic.
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| default for all languages | ID_2089330573 |
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| English | Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency |
Glycogen storage disease due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. Patients have marked hepatomegaly and mild muscular hypotonia. Hypoglycaemia may occur only after prolonged fasting. These symptoms improve with age and adults are generally asymptomatic. |
