학술논문
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
Document Type
article
Author
Source
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100959- (2023)
Subject
Language
English
ISSN
2214-4269
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.