A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease

• Published in: Journal of inherited metabolic disease Vol. 44; no. 2; pp. 388 - 400
• Main Authors: Yap, Zheng Yie, Strucinska, Klaudia, Matsuzaki, Satoshi, Lee, Sukyeong, Si, Yue, Humphries, Kenneth, Tarnopolsky, Mark A., Yoon, Wan Hee
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.03.2021; Blackwell Publishing Ltd
• Subjects: Adolescent; alpha‐ketoglutarate dehydrogenase deficiency; Amino acids; Animals; Ataxia; Child; Child, Preschool; Dehydrogenases; DNA - genetics; Drosophila; Enzymatic activity; Enzymes; Female; Fibroblasts; Gene Expression; Gene Knockdown Techniques; genetic disease; Genetic Predisposition to Disease; HEK293 Cells; Homozygote; Humans; Insects; Ketoglutarate Dehydrogenase Complex - deficiency; Ketoglutarate Dehydrogenase Complex - genetics; Lactic acid; Lethality; Locomotion; Male; Mitochondria; Mitochondrial Diseases - genetics; Movement disorders; Mutants; Mutation; Mutation, Missense; Nervous system; Nervous System Diseases - genetics; OGDH; Oxoglutarate dehydrogenase (lipoamide); Pathogenicity; Point mutation; Proteins; Seizures; TCA cycle; Transfection; Tricarboxylic acid cycle; Young Adult; OGDH; alpha-ketoglutarate dehydrogenase deficiency; genetic disease; TCA cycle

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, wit...