Riboflavin-responsive complex I deficiency

Biochim Biophys Acta. 1995 May 24;1271(1):75-83. doi: 10.1016/0925-4439(95)00013-t.

Abstract

Three patients from a large consanguineous family, and one unrelated patient had exercise intolerance since early childhood and improved by supplementation with a high dosage of riboflavin. This was confirmed by higher endurance power in exercise testing. Riboflavin had been given because complex I, which contains riboflavin in FMN, one of its prosthetic groups, had a very low activity in muscle. Histochemistry showed an increase of subsarcolemmal mitochondria. The low complex I activity contrasted with an increase of the activities of succinate dehydrogenase, succinate-cytochrome c oxidoreductase and cytochrome c oxidase. Isolated mitochondria from these muscle specimens proved deficient in oxidizing pyruvate plus malate and other NAD(+)-linked substrates, but oxidized succinate and ascorbate at equal or higher levels than controls. Two years later a second biopsy was taken in one of the patients, and the activity of complex I had increased from 16% to 47% of the average activity in controls. In the four biopsies, cytochrome c oxidase activity correlated negatively with age. We suspect that this is due to reactive oxygen species generated by the proliferating mitochondria and peroxidizing unsaturated fatty acids of cardiolipin. Three of the four patients had low blood carnitine, and all were found to have hypocarnitinemic family members.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Carnitine / blood
  • Child
  • Consanguinity
  • Electron Transport Complex IV / metabolism
  • Fatigue / drug therapy
  • Fatigue / physiopathology*
  • Female
  • Humans
  • Male
  • Mitochondria, Muscle / metabolism
  • Mitochondria, Muscle / pathology*
  • Mitochondria, Muscle / ultrastructure
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / pathology*
  • NAD(P)H Dehydrogenase (Quinone) / deficiency*
  • Pedigree
  • Riboflavin / therapeutic use*
  • Sarcolemma / pathology
  • Sarcolemma / ultrastructure
  • Succinate Cytochrome c Oxidoreductase / metabolism
  • Succinate Dehydrogenase / metabolism

Substances

  • Succinate Cytochrome c Oxidoreductase
  • Succinate Dehydrogenase
  • NAD(P)H Dehydrogenase (Quinone)
  • Electron Transport Complex IV
  • Carnitine
  • Riboflavin