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

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

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...

Full description

Bibliographic Details
Main Authors: Ranjana Mishra, Meenakshi Bothra Gupta, Sharmila B Mukherjee, Avinash Lomash, Sangeeta Gupta, Seema Kapoor
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Pediatrics Case Reports
Subjects:
alopecia
encephalopathy
hearing loss
multiple carboxylase deficiency
seizures
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=1;spage=12;epage=16;aulast=Mishra

Internet

http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=1;spage=12;epage=16;aulast=Mishra

Similar Items