Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria

Neurology. 2005 Sep 27;65(6):931-3. doi: 10.1212/01.wnl.0000176065.80560.26.

Abstract

The authors report a 27-year-old man with B12-responsive mut- methylmalonic aciduria associated with pure muscle symptoms. Two mutations were found in the methylmalonyl-CoA mutase gene. An exercise test showed a reduced maximal workload and reduced oxygen uptake, and a muscle biopsy showed subsarcolemmal accumulation of mitochondria and normal respiratory chain enzyme activities. These findings may be caused by inhibition of mitochondrial energy metabolism by methylmalonate or its metabolites.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cell Respiration / genetics
  • DNA Mutational Analysis
  • Energy Metabolism / genetics*
  • Exercise Tolerance / genetics
  • Humans
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Methylmalonic Acid / metabolism
  • Methylmalonyl-CoA Mutase / deficiency*
  • Methylmalonyl-CoA Mutase / genetics
  • Mitochondria / enzymology
  • Mitochondria / genetics
  • Mitochondria / pathology
  • Mitochondrial Diseases / enzymology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / physiopathology
  • Muscle Weakness / enzymology
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Sarcolemma / enzymology
  • Sarcolemma / pathology

Substances

  • Methylmalonic Acid
  • Methylmalonyl-CoA Mutase