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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:oxoglutaricaciduria
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Accession:EFO:MONDO:0008759 term browser browse the term
Definition:Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, 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.
Synonyms:exact_synonym: oxoglutarate dehydrogenase deficiency
 related_synonym: 2 alpha ketoglutarate dehydrogenase deficiency;   2-ketoglutarate dehydrogenase deficiency;   ALPHA-ketoglutarate dehydrogenase deficiency;   Alpha KGD deficiency;   Oxoglutaric aciduria
 alt_id: MONDO:0008759
 xref: DOID:0081326;   GARD:617;   MEDGEN:414553;   MESH:C536582;   MIM:203740;   ORDO:31;   SCTID:733630004;   UMLS:C2752074


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            inborn mitochondrial metabolism disorder 0
              oxoglutaricaciduria 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            neuropathy 0
              neuromuscular disease 0
                hereditary neuromuscular disease 0
                  hereditary peripheral neuropathy 0
                    oxoglutaricaciduria 0
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