Biotinidase Deficiency Presenting in Newborn Period: A Case Report
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
How to Cite?: Dr. Bijaylaxmi Behera, Dr. Ajay Kumar, "Biotinidase Deficiency Presenting in Newborn Period: A Case Report", Volume 9 Issue 1, January 2020, International Journal of Science and Research (IJSR), Pages: 680-682, https://www.ijsr.net/getabstract.php?paperid=ART20204101, DOI: https://dx.doi.org/10.21275/ART20204101