Biotin supplementation in children with symptomatic profound biotinidase deficiency and their pregnant mothers

• Glavni autori: Ranjana Mishra (Autor), Meenakshi Bothra Gupta (Autor), Sharmila B Mukherjee (Autor), Avinash Lomash (Autor), Sangeeta Gupta (Autor), Seema Kapoor (Autor)
• Format: Knjiga
• Izdano: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Background: Biotin is the coenzyme of multiple carboxylases involved in gluconeogenesis, fatty acid synthesis, and amino acid catabolism. Biotinidase (BTD) deficiency is an autosomal recessive disorder affecting the biotin cycle. It disrupts endogenous biotin recycling and results in multiple carbox...