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Case Report

Biotinidase Deficiency: Detection through Organicaciduria on TLC

Dhiraj J. Trivedi, Professor, Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka 580009, India. , Dhiraj J. Trivedi

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Indian Journal of Pathology: Research and Practice 6(3(part-2)):p 817-819, Jul-Sep 2017. | DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6317.54

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Abstract

Biotinidase is responsible for cleaving Biotin from Biocytin. Deficiency of biotinidase affects carboxylase enzymes causing dermatological, neurological, immunological or Ophthalmological complications. Biotinidase deficiency is known inborn error of metabolism having a prevalence of 1: 60,000 live births. We are presenting a case of biotinidase deficiency detected and diagnosed at our center.

Keywords: Biotinidase; Biotin; Biocytin; TLC; Organicaciduria. 

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DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6317.54

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