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Formation and breakdown of L-2-hydroxyglutarate and interference of this compound with lysine metabolism

The scheme shows how L-2-hydroxyglutarate is formed and degraded. It also shows the initial steps of the major lysine catabolic pathway (via saccharopine) present in mammalian tissues and of the minor pathway (via L-pipecolate) present in brain and the inhibition exerted by L-2-hydroxyglutarate. (1) Lysine-alpha-ketoglutarate reductase; (2) Saccharopine dehydrogenase; (3) alpha-aminoadipate semialdehyde dehydrogenase; (4) alpha-aminoadipate transaminase; (5) imine reductase; (6) L-pipecolate oxidase. (Source: Rzem R, Achouri Y, Marbaix E, et al. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. PloS One 2015;10[3]: e0119540. Creative Commons Attribution 4.0 License,

Associated Disorders

  • Ataxia
  • Cardiomyopathy
  • Cerebellar atrophy
  • Dystonia
  • Mental retardation
  • Primary brain tumors
  • Progressive intellectual deterioration
  • Seizures
  • Subcortical leukoencephalopathy