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Biotinidase Deficiency Presenting in Newborn Period: A Case Report

Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 1)

Publication Date:

Authors : ;

Page : 680-682

Keywords : Biotinidases deficiency; Encephalopathy; Dermatitis;

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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-Baby?s encephalopathy and dermatitis improved on addition of Biotin. Message- Biotinidase deficiency has favorable outcome in when prompt treatment is instituted.

Last modified: 2021-06-26 19:09:15