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.
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