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Case Studies | Pediatrics | India | Volume 9 Issue 1, January 2020 | Rating: 6.1 / 10
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
Edition: Volume 9 Issue 1, January 2020,
Pages: 680 - 682