International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064

Downloads: 113 | Views: 179

Case Studies | Pediatrics | India | Volume 9 Issue 1, January 2020

Biotinidase Deficiency Presenting in Newborn Period: A Case Report

Dr. Bijaylaxmi Behera | Dr. Ajay Kumar [13]

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

Edition: Volume 9 Issue 1, January 2020,

Pages: 680 - 682

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