Alpha-ketoglutarate dehydrogenase deficiency (Q93769): Difference between revisions
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A acidúria oxoglutárica é um distúrbio do ciclo do ácido tricarboxílico causado pela deficiência de alfa cetoglutarato desidrogenase (também chamada oxoglutarato desidrogenase), caracterizada por retardo psicomotor grave, hipotonia, ataxia, convulsões (sinais da síndrome de Leigh), bem como morte súbita, miocardiopatia e distúrbios hepáticos . | |||
| description / en | description / en | ||
Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterised by severe psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome), as well as sudden death, myocardiopathy, and hepatic disorders. | |||
Revision as of 08:52, 16 August 2026
Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterised by severe psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome), as well as sudden death, myocardiopathy, and hepatic disorders.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1273268933 |
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| English | Alpha-ketoglutarate dehydrogenase deficiency |
Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterised by severe psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome), as well as sudden death, myocardiopathy, and hepatic disorders. |
