Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review

Glycine transporter 1 encephalopathy (OMIM# 617301; glycine encephalopathy with normal serum glycine, GLYT1 transporter dysfunction, and nonketotic hyperglycinemia) is caused by mutations in the SLC6A9 gene. To date, 6 cases have been reported in the literature, characterized as having neonatal onse...

Full description

Bibliographic Details
Main Authors: Rayan Alfallaj MD, Majid Alfadhel MD, MHSc, FCCMG
Format: Article
Language:English
Published: SAGE Publishing 2019-02-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X19831486