Treatment of complex I deficiency with riboflavin

J Neurol Sci. 1993 Sep;118(2):181-7. doi: 10.1016/0022-510x(93)90108-b.

Abstract

We have evaluated the effects of treatment with riboflavin in five patients with a mitochondrial myopathy, associated with a complex I (NADH dehydrogenase) deficiency. Two patients suffered from a clinically pure myopathy and the other patients presented with encephalomyopathic features. Treatment with riboflavin resulted in a clear clinical improvement in the two patients with the myopathic form of complex I deficiency. However, only one of the patients with the encephalomyopathic form improved during therapy. In three of the four patients in whom complex I activity in muscle tissue has been determined again during therapy, complex I activity appeared to be normalized. The clinical effects of treatment in this group of patients do not correlate well with normalization of complex I activity.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Carnitine / therapeutic use
  • Child
  • Child, Preschool
  • Electrophysiology
  • Female
  • Humans
  • Lactates / metabolism
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Encephalomyopathies / pathology
  • Mitochondrial Encephalomyopathies / physiopathology
  • Mitochondrial Myopathies / drug therapy*
  • Mitochondrial Myopathies / pathology
  • Mitochondrial Myopathies / physiopathology
  • Muscles / pathology
  • NADH Dehydrogenase / deficiency*
  • Riboflavin / therapeutic use*
  • Tomography, X-Ray Computed

Substances

  • Lactates
  • NADH Dehydrogenase
  • Carnitine
  • Riboflavin