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...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
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
Subjects:	BCAT2 Branched-chain amino acid Valine Pyridoxine Inborn error of metabolism
Online Access:	http://www.sciencedirect.com/science/article/pii/S221442692500028X