3-Ketothiolase deficiency

B. Middleton, K. Bartlett, A. Romanos, J. Gomez Vazquez, C. Conde, R. A. Cannon, M. Lipson, L. Sweetman, W. L. Nyhan

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Two patients have been studied in whom the activity of the short chain-length-specific mitochondrial 3-ketothiolase was found to be deficient. Use of a range of 3-ketoacyl-CoA substrates showed that the other 3-ketothiolase isoenzymes were normal in each case. Both patients had episodic ketosis and metabolic acidosis. One patient had substantial evidence of damage to the central nervous system and two siblings who had died of the disease. The organic aciduria was characterized by the excretion of 2-methyl-3-hydroxybutyric acid and tiglyglycine. In one patient the organic aciduria was very subtle and was masked during the presence of ketosis, but it was clarified by an isoleucine load after recovery from ketosis.

Original languageEnglish (US)
Pages (from-to)586-589
Number of pages4
JournalEuropean Journal of Pediatrics
Issue number6
StatePublished - Apr 1986
Externally publishedYes


  • 2-Methyl-3-hydroxybutyric acid
  • 3-Ketothiolase
  • Tiglyglycine

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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