Biotinidase Deficiency Presenting in Newborn Period: A Case Report

Background-Biotinidase deficiency is a rare metabolic disorder with presentation at 3 to 6 months of life with encephalopathy, alopecia,dermatitis.It rarely manifests in newborn period. Case-A male newborn with similar presentation.Enzyme assay confirmed profound deficiency in the Biotinidase enzyme activity. Intervention-Baby?s encephalopathy and dermatitis improved on addition of Biotin. Message- Biotinidase deficiency has favorable outcome in when prompt treatment is instituted.