Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency

M. Di Rocco, A. Superti-Furga, P. Durand

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)119-120
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume7
Issue numberSUPPL. 2
DOIs
Publication statusPublished - 1984

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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