Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.
Mol Genet Metab Rep
; 34: 100959, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-36817643
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.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Genet Metab Rep
Ano de publicação:
2023
Tipo de documento:
Article