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