Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine

Arch Neurol. 1991 Mar;48(3):334-8. doi: 10.1001/archneur.1991.00530150106028.

Abstract

We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (complex I). The patient dramatically improved on treatment with riboflavin and L-carnitine. Seven months after the start of the treatment, complex I activity was determined again and appeared to be normalized. Normalization of the enzymatic defect at this level has not been reported before. We provide a survey of nine patients with pure myopathy, associated with complex I deficiency and onset of symptoms in childhood.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Carnitine / therapeutic use*
  • Child
  • Drug Therapy, Combination
  • Humans
  • Male
  • Microscopy, Electron
  • Muscles / pathology
  • Muscles / ultrastructure
  • Muscular Diseases / drug therapy
  • Muscular Diseases / etiology*
  • Muscular Diseases / pathology
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases / deficiency*
  • Riboflavin / therapeutic use*

Substances

  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases
  • Carnitine
  • Riboflavin