title: Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.
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.
authors.affiliation: Department of Biochemistry Kasturba Medical College, Center for Basic Sciences, Bejai, 575 004 Mangalore.
authors.forename: N
authors.initials: N
authors.lastname: Ananth
authors.forename: G S
authors.initials: GS
authors.lastname: Praveen Kumar
keywords: Biotin; alopecia; biotinidase; n-biotinyl para aminobenzoate