Indian Journal of Dermatology
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CASE REPORT
Year : 2014  |  Volume : 59  |  Issue : 5  |  Page : 502-504

Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase


1 Department of Pediatrics, Medical College, ESI, Joka, India
2 Department of Pediatrics, ESI, Joka, India
3 Departments of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India
4 Department of Paediatrics, Institute of Child Health, Kolkata, West Bengal, India

Correspondence Address:
Debadatta Mukhopadhyay
G.C. 109, Sector 3, Salt Lake, Kolkata 700 106, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.139910

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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.


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