Deficient Biotinidase Activity in Late-Onset Multiple Carboxylase Deficiency

Barry Wolf, Robert E. Grier, W. Davis Parker, Stephen I. Goodman, Richard J. Allen

Research output: Contribution to journalLetterpeer-review

65 Scopus citations


To the Editor: Two forms of multiple carboxylase deficiency are recognized that lead to kctoacidosis and organic acidemia beginning shortly after birth and in early infancy, respectively.1 2 Both forms are associated with diminished activity of the biotin-dependent carboxylases in the blood leukocytes of untreated patients, and both respond to the administration of pharmacologic doses of biotin. The neonatal form is a recessive trait that results from a defect in holocarboxylase synthetase, the enzyme that covalently links biotin to propionyl-CoA-carboxylase, pyruvate carboxylase, and β-methylcrotonyl-CoA carboxylase.3 High doses of the vitamin can lead to a complete remission of the presenting symptoms of.

Original languageEnglish (US)
Pages (from-to)161
Number of pages1
JournalNew England Journal of Medicine
Issue number3
StatePublished - Jan 20 1983

ASJC Scopus subject areas

  • Medicine(all)


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