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L-2-hydroxyglutaric aciduria as an example of an inborn error of metabolite repair

Mutations inactivating metabolite repair enzymes lead to various diseases. An example is L-2-hydroxyglutaric aciduria in which mutations in L-2-hydroxyglutarate dehydrogenase prevent the conversion of toxic L-2 hydroxy-glutarate to alpha-ketoglutarate, ultimately resulting in leukoencephalopathy. (Source: Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Inborn errors of metabolite repair. J Inherit Metab Dis 2020;43[1]:14-24. Creative Commons Attribution License.)

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