P199: Novel homozygous GLDC variants causing late-onset glycine encephalopathy: A case report and updated review of the literature

Pathogenic variants in the glycine cleavage system P protein (GCSP) encoding by GLDC gene cause autosomal recessive glycine encephalopathy (MIM 605899) characterized by neonatal hypotonia, progressive lethargy, feeding difficulty, respiratory distress, early-onset seizure, global developmental delays, hyperactivity with or without choreatic movements and cerebral abnormalities (Brunel-Guitton et al, 2011). So far, only seventeen nonketotic hyperglycemic patients with prenatal record were reported to have uneventful pregnancy with normal delivery.