Biotinidase Deficiency: Detection through Organicaciduria on TLC
Journal Title: Indian Journal of Pathology: Research and Practice - Year 2017, Vol 6, Issue 3
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.
Authors and Affiliations
Dhiraj J. Trivedi
Keywords
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- EP ID EP467823
- DOI 10.21088/ijprp.2278.148X.6317.54
- Views 81
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