Alpha-ketoglutarate dehydrogenase complex deficiency

Definition:

The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC is mitochondrial enzyme complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex and branched-chain ketoacid dehydrogenase complex. It has also been reported that reductions in the KGDHC occur in a number of neurodegenerative disorders including Alzheimer's disease.

References:

[1]. G E Gibson, et al. The alpha-ketoglutarate dehydrogenase complex in neurodegeneration. Neurochem Int. 2000 Feb;36(2):97-112. [Content Brief]

[2]. Marie-Hélène Odièvre, et al. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005 Mar;25(3):323-4. [Content Brief]

[3]. N Guffon, et al. 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J Inherit Metab Dis. 1993;16(5):821-30. [Content Brief]

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