Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency (original) (raw)

This research investigates the immunoregulatory dysfunction related to multiple carboxylase deficiency (MCD) associated with biotin. A 12-month-old patient exhibited severe clinical symptoms and biochemical abnormalities indicative of MCD, which improved upon biotin supplementation. Notably, immunological assessments revealed compromised PGE2 synthesis and T lymphocyte-mediated suppression, pointing towards significant implications for immune regulation in MCD. The findings suggest that biotin therapy may play a crucial role in restoring normal immunological function in affected individuals.