Malonyl coenzyme A decarboxylase deficiency

J Inherit Metab Dis. 1984;7(1):21-6. doi: 10.1007/BF01805615.

Abstract

A patient is described with a deficiency of the mitochondrial enzyme, malonyl CoA decarboxylase - an inborn error of metabolism not recognized previously. The enzyme defect was first suspected because of persistent excretion of malonic and methylmalonic acids in urine in a child with repeated episodes of vomiting, some requiring hospitalization. Disturbances of lipid metabolism were demonstrated.

Publication types

  • Case Reports

MeSH terms

  • Acyl Coenzyme A / metabolism*
  • Carboxy-Lyases / deficiency*
  • Child, Preschool
  • Fatty Acid Synthases / metabolism
  • Fibroblasts / enzymology
  • Humans
  • Male
  • Malonates / metabolism
  • Malonyl Coenzyme A / metabolism*
  • Metabolism, Inborn Errors / enzymology*
  • Methylmalonic Acid / urine
  • Methylmalonyl-CoA Mutase / metabolism
  • Mitochondria / enzymology

Substances

  • Acyl Coenzyme A
  • Malonates
  • Malonyl Coenzyme A
  • Methylmalonic Acid
  • malonic acid
  • Fatty Acid Synthases
  • Carboxy-Lyases
  • malonyl-CoA decarboxylase
  • Methylmalonyl-CoA Mutase