Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia

J Inherit Metab Dis. 1978;1(3):105-7. doi: 10.1007/BF01805683.

Abstract

Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / urine*
  • Amino Acid Metabolism, Inborn Errors / urine*
  • Child, Preschool
  • Chromatography, Gas
  • Female
  • Humans
  • Ketosis / etiology
  • Ketosis / urine*
  • Malonates / urine*
  • Mass Spectrometry
  • Methylmalonic Acid / urine*

Substances

  • Malonates
  • Methylmalonic Acid