Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270.

Abstract

We investigated respiratory chain (RC), tricarboxylic acid cycle (TCA) enzyme activities, and oxidative stress in the tissues of six patients with organic aciduria (OA) presenting various severe complications to further document the role of mitochondrial OXPHOS dysfunction in the development of complications. Two children with propionic acidemia (PA), presenting a severe cardiomyopathy, and four with methylmalonic aciduria (MMA), who developed a neurologic disease (3/4) and renal failure (2/4), were followed. We measured RC and TCA cycle enzyme activity in patient tissues and assessed oxidative metabolism in fibroblasts in vitro. Various RC deficiencies were found in tissues of patients with PA and MMA. TCA cycle enzyme activities were normal when investigated and reactive oxygen species were decreased as well as detoxifying systems activities in the two patients tested. In conclusion, mitochondrial dysfunction was found in all investigated tissues of six patients with organic acidemia presenting with severe complications. Reactive oxygen species production and detoxification were decreased in fibroblast primary cultures. Our results bring further support for a role of secondary respiratory deficiency in the development of late multiorgan complications of these diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Cardiomyopathies / etiology
  • Citric Acid Cycle / physiology*
  • Electron Transport / physiology*
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Infant, Newborn
  • Kidney / metabolism
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Lipid Metabolism, Inborn Errors / genetics
  • Liver / metabolism
  • Male
  • Methylmalonyl-CoA Decarboxylase / genetics
  • Muscle, Skeletal / metabolism
  • Mutation / genetics
  • Myocardium / metabolism
  • Nervous System Diseases / etiology
  • Oxidative Phosphorylation
  • Oxidative Stress / physiology*
  • Reactive Oxygen Species / metabolism
  • Renal Insufficiency / etiology

Substances

  • Reactive Oxygen Species
  • Methylmalonyl-CoA Decarboxylase