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Metabolite repair

Many enzymes catalyze side reactions leading to the production of abnormal metabolites. These metabolites may be toxic (eg, if they inhibit other enzymes). Fortunately, under normal circumstances, these abnormal metabolites are generally destroyed by metabolite repair enzymes and so become unable to exert toxic effects. (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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Associated Disorders

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