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

N. Ananth, G. S.Praveen Kumar

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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-biotinyl paminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy of biotin supplementation in biotinidase deficiency.

Original languageEnglish
Pages (from-to)23-26
Number of pages4
JournalIndian Journal of Clinical Biochemistry
Issue number2
Publication statusPublished - 01-01-2003
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry


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