Abstract
Multiple carboxylase deficiency (MCD) is characterized by decreased activities of the biotin-dependent carboxy-lases and a specific urinary organic acid pattern. The early-onset form is due to a defect of holocarboxylase-synthetase (Sweetman, 1981) while deficient biotinidase activity leads to the late-onset form (Wolf et al., 1983). Both forms are responsive to administration of biotin in pharmacological dosage. We report preliminary results of original studies carried out on the cerebrospinal fluid (CSF) of a new case of biotinidase-deficient MCD.KeywordsPyruvate CarboxylaseDeficient BiotinidaseBiotinidase ActivityPyruvate Carboxylase ActivityCentral Nervous System LevelThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
