Catalog

Alpha-ketoglutarate dehydrogenase deficiency

No MMS code

Link to WHO Definition

Alpha-ketoglutarate dehydrogenase deficiency – http://id.who.int/icd/entity/1273268933

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.