Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency

B. J. Burri, L. Sweetman, W. L. Nyhan

Research output: Contribution to journalArticlepeer-review

58 Scopus citations

Abstract

Holocarboxylase synthetase activity has been determined in fibroblasts of 7 patients with the neonatal form of biotin-responsive multiple carboxylase deficiency. The normal K(m) for biotin was 15 ± 3 nmol/l, while in the patients the values ranged from 48 to 1,062 nmol/l. The mean maximum velocity was 27% of normal. Differences among the values obtained for the K(m) for biotin and the heat stability of holocarboxylase synthetase suggested that the patients studied represented at least 4 distinct variants at the holocarboxylase synthetase locus.

Original languageEnglish (US)
Pages (from-to)326-337
Number of pages12
JournalAmerican Journal of Human Genetics
Volume37
Issue number2
StatePublished - 1985
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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