Downloading: Biotinidase Deficiency Presenting in Newborn Period: A Case Report
International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
www.ijsr.net | Open Access | Fully Refereed | Peer Reviewed International Journal

ISSN: 2319-7064



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Biotinidase Deficiency Presenting in Newborn Period: A Case Report

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



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