title: Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
abstract: Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunological and ophthalmological abnormalities. This is a case of a 3-year-old boy presenting with delayed developmental milestones, tachypnea, progressively increasing ataxia, alopecia and dermatitis, all which dramatically responded to high doses of biotin.
authors.affiliation: Department of Pediatrics, Medical College, Kolkata, West Bengal, India.
authors.forename: Debadatta
authors.initials: D
authors.lastname: Mukhopadhyay
authors.affiliation: Department of Pediatrics, ESI, Joka, Kolkata, West Bengal, India.
authors.forename: Manoj Kumar
authors.initials: MK
authors.lastname: Das
authors.affiliation: Department of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India.
authors.forename: Sandipan
authors.initials: S
authors.lastname: Dhar
authors.affiliation: Department of Paediatrics, Institute of Child Health, Kolkata, West Bengal, India.
authors.forename: Maya
authors.initials: M
authors.lastname: Mukhopadhyay
keywords: Alopecia; ataxia; biotinidase; carboxylases; dermatitis