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 journalLetter

63 Scopus citations

Abstract

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)
Number of pages1
JournalNew England Journal of Medicine
Volume308
Issue number3
DOIs
StatePublished - Jan 20 1983

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Deficient Biotinidase Activity in Late-Onset Multiple Carboxylase Deficiency'. Together they form a unique fingerprint.

  • Cite this