New metabolites in isovaleric acidemia

R. J.W. Truscott, D. Malegan, E. McCairns, D. Burke, L. Hick, P. Sims, B. Halpern, K. Tanaka, L. Sweetman, W. L. Nyhan, J. Hammond, C. Bumack, E. A. Haan, D. M. Danks

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Two metabolites, 4-hydroxyisovaleric acid and mesaconic acid, have been identified and quantified in the urine of a patient with isovaleric acidemia. These compounds do not appear to have been reported previously as being components of human metabolism. In addition, large quantities of 3-methylbutyrolactone, the lactone of 4-hydroxyisovaleric acid, were observed in the volatile profile obtained by headspace chromatography. The demonstration of 4-hydroxyisovaleric acid supports the contention that urinary methylsuccinic acid seen in patients with isovaleric acidemia has arisen by ω-oxidation of isovaleric acid. The identification of mesaconic acid may indicate that the methylsuccinic acid formed in these patients is subject to further metabolism.

Original languageEnglish (US)
Pages (from-to)187-203
Number of pages17
JournalClinica Chimica Acta
Issue number2-3
StatePublished - Mar 5 1981
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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