Abstract
Multiple carboxylase deficiency (MCD) is characterized by decreased activities of the biotin-dependent carboxylases and a specific urinary organic acid pattern. The early-onset form is due to a defect of holocarboxylase-synthetase while deficient biotinidase activity leads to the late-onset form. Both forms are responsive to administration of biotin in pharmacological dosage. The authors report preliminary results of original studies carried out on the cerebrospinal fluid (CSF) of a new case of biotinidase-deficient MCD.
Original language | English |
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Pages (from-to) | 119-120 |
Number of pages | 2 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 7 |
Issue number | SUPPL. 2 |
DOIs | |
Publication status | Published - 1984 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Endocrinology