Alpha-ketoglutarate dehydrogenase deficiency (Q93769): Difference between revisions

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Latest 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
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.