{Reference Type}: Case Reports
{Title}: Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.
{Author}: Huynh MT;Landais E;Agathe JS;Panchout A;Caroline VB;Bruel H;
{Journal}: Mol Genet Metab Rep
{Volume}: 34
{Issue}: 0
{Year}: Mar 2023
{Factor}: 2.082
{DOI}: 10.1016/j.ymgmr.2023.100959
{Abstract}: 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.