Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency

S. Aramaki, D. Lehotay, L. Sweetman, W. L. Nyhan, S. C. Winter, B. Middleton

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

The concentrations of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine were determined by gas chromatography-mass spectrometry in urine collected before and for 8 h after loading with 100mg of isoleucine per kg of body weight. The sum of 2-methylacetoacetate and 2-butanone, a decarboxylation product, was determined as the 2-butanone dinitrophenylhydrazone derivative. Substantial increases in each compound were encountered in a patient with a documented defect of 2-methylacetoacetyl-CoA thiolase. Increased quantities of 2-methyl-3-hydroxybutyrate and tiglylglycine were also found in four children with clinical symptoms similar to those associated with 2-methylacetoacetyl-CoA thiolase deficiency but in whom the activity of the enzyme was found to be normal. The concentration of 2-methylacetoacetate plus 2-butanone in the urine increased after an isoleucine load only in the patient with 2-methylacetoacetyl-CoA thiolase deficiency.

Original languageEnglish (US)
Pages (from-to)63-74
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume14
Issue number1
DOIs
StatePublished - Jan 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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