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

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.

Keywords

• Novel GLDC likely pathogenic variant
• glycine encephalopathy
• Polyhydramnios
• Chorioangioma
• Dandy-Walker malformation