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Two forms of biotin‐responsive multiple carboxylase deficiency
Author(s) -
Sweetman L.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263587
Subject(s) - biotin , pyruvate carboxylase , biotinidase deficiency , excretion , biotin deficiency , endocrinology , medicine , biology , biochemistry , enzyme
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.