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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
Similar Articles with Keyword 'Encephalopathy'
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Case Studies, Pediatrics, India, Volume 11 Issue 6, June 2022
Pages: 847 - 850A Case Report on Systemic Lupus Erythematosis, Lupus Nephritis, Acute Pancreatitis, Posterior Reversible Encephalopathy Syndrome (PRES), Macrophage Activating Syndrome (MAS)
S. Mohamed Ashik Ali | P. Muhammed Nishad | A. Priya [3] | K. Arun Chander
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Comparative Studies, Pediatrics, India, Volume 11 Issue 1, January 2022
Pages: 1550 - 1552A Short Retrospectine Review of CP in Children
Jai Prakash [3] | Reghupathy Paneerselvam | Mithilesh Kumar [2]