Preferred Label : Alpha-ketoglutarate dehydrogenase deficiency;
ICD-11 definition : Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of
alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterized by severe
psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome),
as well as sudden death, myocardiopathy, and hepatic disorders.;
ICD-11 synonym : Oxoglutaric aciduria; 2-oxoglutarate deficiency;
Origin ID : 1273268933;
Currated CISMeF NLP mapping
Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of
alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterized by severe
psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome),
as well as sudden death, myocardiopathy, and hepatic disorders.
