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