alpha-ketoglutarate dehydrogenase deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. (Orphanet Rare Disease Ontology, Orphanet_31)
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1 genes associated with the alpha-ketoglutarate dehydrogenase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)