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 language | English (US) |
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Pages (from-to) | 53-54 |
Number of pages | 2 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 4 |
Issue number | 1 |
DOIs | |
State | Published - Dec 1981 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)