Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency (Q100837): Difference between revisions
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A doença de depósito de glicogênio devido a deficiência da fosforilase quinase hepática é um erro inato benigno do metabolismo do glicogênio, caracterizado por hepatomegalia, retardo de crescimento e leve atraso no desenvolvimento motor durante a infância. É a apresentação mais comum de doença de depósito de glicogênio devido à deficiência de fosforilase quinase. | |||
| description / en | description / en | ||
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. | |||
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.
| Language | Label | Description | Also known as |
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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. |
