Indian Journal of Clinical Biochemistry

, Volume 18, Issue 2, pp 23–26

Biotinidase deficiency—Diagnosis by enzyme assay and a follow-up study

  • N. Ananth
  • G. S. Praveen Kumar
Article

DOI: 10.1007/BF02867363

Cite this article as:
Ananth, N. & Praveen Kumar, G.S. Indian J Clin Biochem (2003) 18: 23. doi:10.1007/BF02867363

Abstract

A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild, acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency., a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinylp-aminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency.

Key words

Biotinbiotinidasen-biotinyl para aminobenzoatealopecia

Copyright information

© Association of Clinical Biochemists of India 2003

Authors and Affiliations

  • N. Ananth
    • 1
  • G. S. Praveen Kumar
    • 1
  1. 1.Department of Biochemistry Kasturba Medical CollegeCenter for Basic SciencesMangalore