Article
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
Journal of inherited metabolic disease - 1 Mar 2021
Yap Zheng Yie, Strucinska Klaudia, Matsuzaki Satoshi, Lee Sukyeong, Si Yue, Humphries Kenneth, Tarnopolsky Mark A, Yoon Wan Hee
Abstract excerpt
2-Oxoglutarate dehydrogenase (OGDH) is a rate-limiting enzyme in the mitochondrial TCA cycle, encoded by the OGDH gene. α-Ketoglutarate dehydrogenase (OGDH) deficiency was previously reported in association with developmental delay, hypotonia, and movement disorders and metabolic decompensation, with no genetic data provided. Using whole exome sequencing, we identified two individuals carrying a homozygous...
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