Glycogen storage disease due to glycogen debranching enzyme deficiency (Q84785): Difference between revisions
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Deficiência da enzima que desramifica o glicogênio ou doença de depósito de glicogênio tipo 3 é uma forma de doença de depósito de glicogênio caracterizada por grave fraqueza muscular e hepatopatia. Crianças apresentam com hepatomegalia, atraso de crescimento e convulsões ocasionais causadas por hipoglicemia. Hepatomegalia pode desaparecer na vida adulta. Fraqueza muscular é lentamente progressiva. Outros sinais frequentemente associados incluem hipotonia muscular e cardiomiopatia hipertrófica. Os sintomas geralmente melhoram na puberdade, exceto nos poucos casos em que aparece cirrose ou miopatia. | |||
| description / en | description / en | ||
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterised by severe muscle weakness and hepatopathy. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycaemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears. | |||
Revision as of 10:08, 15 August 2026
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterised by severe muscle weakness and hepatopathy. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycaemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears.
| Language | Label | Description | Also known as |
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| default for all languages | ID_530430134 |
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| English | Glycogen storage disease due to glycogen debranching enzyme deficiency |
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterised by severe muscle weakness and hepatopathy. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycaemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears. |
