Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency (Q100837): Difference between revisions
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Revision as of 17:36, 16 August 2026
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency.
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| default for all languages | ID_564605304 |
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| English | Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency |
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency. |
