World Journal of
Pharmaceutical and Life Sciences

A CASE REPORT OF BIOTINIDASE DEFICIENCY

Somasekar R., Balamurugan S., Ramkumar P. and Abinaya G. R.*

ABSTRACT

Background: Biotinidase deficiency is an autosomal recessive inborn error of metabolism, characterized by neurological and cutaneous symptoms. Eventhough the prevalence is 1 in 60089 live births, the diagnosis of this rare condition should not be missed since there is dramatic response to oral therapy if diagnosed earlier. The aim of the report is to share the classical presentation of biotinidase deficiency and its dramatic response to oral biotin supplementation. Characteristics: 2 month old baby with multiple episodes of seizures, skin and hair changes. Investigations revealed the diagnosis of biotinidase deficiency. The baby was started on oral biotin therapy. Outcome: Responded dramatically to treatment with control of seizures, skin and hair changes. Message: Biotinidase deficiency is a rare and curable disorder and the diagnosis should not be missed.

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