oxoglutaricaciduria
http://purl.obolibrary.org/obo/MONDO_0008759
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. [ Orphanet:31 ]
Term info
- GARD:0000617 (MONDO:equivalentTo)
- DOID:0081326 (MONDO:equivalentTo)
- OMIM:203740 (Orphanet:31/e)
- SCTID:733630004 (MONDO:equivalentTo)
- MESH:C536582 (Orphanet:31/e)
- Orphanet:31 (OMIM:203740)
- UMLS:C2752074 (Orphanet:31/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4521
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.
http://purl.obolibrary.org/obo/Orphanet_31, http://purl.obolibrary.org/obo/DOID_0081326, http://identifiers.org/mesh/C536582, http://identifiers.org/snomedct/733630004, http://linkedlifedata.com/resource/umls/id/C2752074, https://omim.org/entry/203740
Alpha-ketoglutarate dehydrogenase deficiency, oxoglutarate dehydrogenase deficiency
2-ketoglutarate dehydrogenase deficiency, 2 alpha ketoglutarate dehydrogenase deficiency, Oxoglutaric aciduria, Alpha KGD deficiency, ALPHA-ketoglutarate dehydrogenase deficiency, Alpha-Kgd deficiency
MONDO:0008759