Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review

Branched-chain amino acid transferase type 2 (BCAT2) deficiency is a rare autosomal recessive genetic condition, with only seven cases described to date. It results in an elevation of branched-chain amino acid (BCAA) plasma concentrations, predominantly on valine, with normal concentration of plasma...

Full description

Saved in:
Bibliographic Details
Main Authors: Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, Jean-François Benoist, Guilia Barcia, Boris Keren, Inès Mannes, Clément Pontoizeau, Charlotte Mansat, Apolline Imbard
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
BCAT2
Branched-chain amino acid
Valine
Pyridoxine
Inborn error of metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692500028X
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S221442692500028X

Similar Items