Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency
5 Citations•2021•
Kaili Shi, Huimin Zhao, Shu-ming Xu
Molecular Genetics & Genomic Medicine
Treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has been attempted; the efficacy of therapy, however, remains controversial.
Abstract
Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene. Previous treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has been attempted; the efficacy of therapy, however, remains controversial.