Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency

Clin Chim Acta. 1984 May 16;139(1):13-21. doi: 10.1016/0009-8981(84)90187-6.

Abstract

Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine , was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine , formed from free carnitine and excess propionylCoA exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Carnitine / deficiency*
  • Carnitine / therapeutic use
  • Carnitine / urine
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Malonates / urine*
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / urine
  • Methylmalonic Acid / urine*
  • Muscles / metabolism
  • Propionates / urine*

Substances

  • Malonates
  • Propionates
  • propionylcarnitine
  • Methylmalonic Acid
  • propionic acid
  • Carnitine