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.

SUBMITTER: Huynh MT 

PROVIDER: S-EPMC9932748 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature