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