Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency (Q100846): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A doença de depósito de glicogênio devida à deficiência de fosforilase quinase no fígado e músculo é um erro inato benigno do metabolismo do glicogênio. É a forma mais branda de DDG devido à deficiência de fosforilase quinase. Os pacientes apresentam hepatomegalia acentuada e hipotonia muscular leve. A hipoglicemia pode ocorrer somente após jejum prolongado. Esses sintomas melhoram com a idade e os adultos geralmente são assintomáticos. | |||
| description / en | description / en | ||
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. | |||
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2089330573 |
||
| 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. |
