KEGG   VARIANT: 4967v1
Entry
4967v1                      Variant                                
Name
OGDH deficiency
Type
Loss of function
Gene
OGDH  oxoglutarate dehydrogenase [KO:K00164]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613022
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H02006  Alpha-ketoglutarate dehydrogenase complex deficiency
Reference
PMID:32383294
  Authors
Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH
  Title
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
  Journal
J Inherit Metab Dis 44:388-400 (2021)
DOI:10.1002/jimd.12248
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