Related Experiment Video
Updated: May 7, 2026

In Vivo Proximity Biotinylation for Protein Interaction Studies in Paramecium tetraurelia
Published on: September 12, 2025
Biotinidase deficiency: an atypical presentation
Sujatha Jagadeesh1, Beena Suresh, Suresh Seshadri
1Mediscan Systems, 197 Dr Natesan Road, Mylapore, Chennai 600004, Tamil Nadu, India - Department of Genetics.
Abstract:
Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.
Related Concept Videos
Pedigree Analysis
Inborn Errors of Metabolism
Probability Laws
Vitamins
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Type I Diabetes III: Clinical Manifestations

