%0 Case Reports
%T Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.
%A Huynh MT
%A Landais E
%A Agathe JS
%A Panchout A
%A Caroline VB
%A Bruel H
%J Mol Genet Metab Rep
%V 34
%N 0
%D Mar 2023
%M 36817643
%F 2.082
%R 10.1016/j.ymgmr.2023.100959
%X Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous GLDC likely pathogenic variant c.707G > A p.(Arg236Gln). Polyhydramnios was noted at fetal ultrasound. He displayed global developmental delay, craniofacial dysmorphism, convulsions. Our report expands the phenotypic and genetic spectrum of late-onset nonketotic hyperglycinemia.