Two forms of biotin-responsive multiple carboxylase deficiency

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48 Scopus citations

Abstract

Biotin-responsive multiple carboxylase deficiencies are classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovalerate and 3-hydroxypropionate than the late form and was associated with normal plasma biotin concentrations. It is proposed that holocarboxylase synthetase and intestinal biotin absorption are defective in the early and late forms respectively.

Original languageEnglish (US)
Pages (from-to)53-54
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume4
Issue number1
DOIs
StatePublished - Dec 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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