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Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.
- Source :
-
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Feb 06; Vol. 34, pp. 100959. Date of Electronic Publication: 2023 Feb 06 (Print Publication: 2023). - Publication Year :
- 2023
-
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.<br />Competing Interests: The authors declared no conflicts of interest.<br /> (© 2023 The Authors.)
Details
- Language :
- English
- ISSN :
- 2214-4269
- Volume :
- 34
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism reports
- Publication Type :
- Report
- Accession number :
- 36817643
- Full Text :
- https://doi.org/10.1016/j.ymgmr.2023.100959