Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

J Inherit Metab Dis. 1994;17(2):196-204. doi: 10.1007/BF00711617.

Abstract

An 11-year-old girl with exercise intolerance, fatiguability from early childhood, had high blood lactate levels. Histochemistry showed increased activity of succinate dehydrogenase at the periphery of the muscle fibres, whereas aggregates of mitochondria were seen by electron microscopy. Biochemical investigation of isolated mitochondria and homogenate from muscle showed evidence of a severe complex I deficiency. In contrast, succinate dehydrogenase, complex II+III and complex IV were increased in activity. Therapy with biotin, riboflavin, nicotinamide, carnitine and amino acids resulted in an improvement of her endurance. 31P NMR spectroscopy of her forearm muscle showed a decreased ratio of phosphocreatine (PCr) over ATP. After exercise the PCr recovery rate was 26% of the average rate in 20 healthy untrained controls. When the therapy was suspended the PCr/ATP ratio at rest decreased from 2.60 to 2.34, and the PCr recovery rate after exercise decreased to 21% of the average control rate. The therapy was reinstituted but only riboflavin and carnitine were given. The PCr/ATP ratio increased to 2.60 and the PCr recovery rate increased to 32% of the control rate. Improvement of the energy metabolism in patients with defects in the oxidative phosphorylation may add to the quality of life; 31P NMR spectroscopy can measure these improvements.

Publication types

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

MeSH terms

  • Acidosis, Lactic / drug therapy
  • Acidosis, Lactic / enzymology
  • Acidosis, Lactic / genetics*
  • Ca(2+) Mg(2+)-ATPase / metabolism
  • Carnitine / blood
  • Child
  • Energy Metabolism / physiology
  • Female
  • Humans
  • Magnetic Resonance Spectroscopy
  • Mitochondria, Muscle / enzymology
  • Muscles / enzymology
  • Muscles / metabolism
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • NAD(P)H Dehydrogenase (Quinone) / deficiency*
  • Oxygen Consumption / physiology*
  • Vitamins / therapeutic use*

Substances

  • Vitamins
  • NAD(P)H Dehydrogenase (Quinone)
  • Ca(2+) Mg(2+)-ATPase
  • Carnitine