Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

• Main Authors: Xiaojiao Wu (Author), Jiancheng Jiao (Author), Yaofang Xia (Author), Xiaotong Yan (Author), Zehao Liu (Author), Yanyan Cao (Author), Li Ma (Author)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype-phenotype association remain unclear. Here, we...