IntroductionAlpha-Ketoglutarate dehydrogenase (2-KGD) deficiency, a rare disorder of the Krebs cycle, was described for the first time as a progressive neurodegenerative disease with 2-ketoglutaric aciduria in two siblings of a Tunisian consanguineous family by Kohlschutter and colleagues (1982) [1]. Alpha-Ketoglutarate dehydrogenase is a multienzyme complex that catalyzes the oxidative decarboxylation of a-ketoglutarate to succinyl-coenzyme A in the tricarboxylic acid cycle. It is made up of three components:E1 a-ketoglutarate lipoamide oxidoreductase.E2 dihydrolipoamide succinyltransferase transfers the carboxyl group to the coenzyme A moiety.E3 dihydrolipoamide dehydrogenase transfers reducing oxygen from E2 to a flavoprotein and finally to nicotinamide-adenine dinucleotide.Onset and clinical presentation of the reported cases of the (2-KGD) deficiency are heterogeneous, with mostly severe neurological impairment, including muscular hypotonia, developmental delay, extrapyramidal symptoms, ataxia, increased extensor tonus, and seizures. The age of onset varied between the neonatal period and 16 months. The oldest child reported died at the age of 10 years [1, 2, and 3].
