Dr. Bijaylaxmi Behera, Dr. Ajay Kumar
Abstract: 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-Babys encephalopathy and dermatitis improved on addition of Biotin. Message- Biotinidase deficiency has favorable outcome in when prompt treatment is instituted.
Keywords: Biotinidases deficiency, Encephalopathy, Dermatitis, Newborn