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.

• Authors: Minh-Tuan Huynh, Emilie Landais, Jean-Madeleine De Sainte Agathe, Anne Panchout, De Vanssay De Blavous-Legendre Caroline, Henri Bruel
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 34 Pg. 100959 (Mar 2023) ISSN: 2214-4269 [Print] United States
• PMID: 36817643 (Publication Type: Case Reports)
• Copyright: © 2023 The Authors.