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: N Ananth, G S Praveen Kumar
• Journal: Indian journal of clinical biochemistry : IJCB (Indian J Clin Biochem) Vol. 18 Issue 2 Pg. 23-6 (Jul 2003) ISSN: 0970-1915 [Print] India
• PMID: 23105388 (Publication Type: Journal Article)