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Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.

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.
AuthorsM Duran, L Bruinvis, D Ketting, S K Wadman
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 1 Issue 3 Pg. 105-7 ( 1978) ISSN: 0141-8955 [Print] United States
PMID116077 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Malonates
  • Methylmalonic Acid
Topics
  • Acidosis (urine)
  • Amino Acid Metabolism, Inborn Errors (urine)
  • Child, Preschool
  • Chromatography, Gas
  • Female
  • Humans
  • Ketosis (etiology, urine)
  • Malonates (urine)
  • Mass Spectrometry
  • Methylmalonic Acid (urine)

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