Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.

新型纯合子 GLDC 变异导致迟发性甘氨酸脑病 ： 一例病例报告及文献综述.

• 影响指数: 2.082
• 发表时间: Mar 2023
• 来源期刊: Mol Genet Metab Rep
• DOI: 10.1016/j.ymgmr.2023.100959
• PMID: 36817643
• 文章类型: Case Reports
• 作者列表: Huynh MT,Landais E,Agathe JS,Panchout A,Caroline VB,Bruel H

关键词: Chorioangioma; Dandy-Walker malformation; Novel GLDC likely pathogenic variant; Polyhydramnios; glycine encephalopathy

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.

摘要

甘氨酸脑病（MIM#605899）是一种常染色体隐性遗传先天性代谢错误，由三个基因GLDC的致病变异，AMT,GCSH编码甘氨酸裂解酶系统。我们报告了一个8岁的男孩，患有迟发性甘氨酸脑病，他有一个新的纯合GLDC可能致病变异c.707G>Ap。（Arg236Gln）。胎儿超声检查发现羊水过多。他表现出全球发育迟缓，颅面畸形,抽搐.我们的报告扩展了迟发性非酮症性高血糖症的表型和遗传谱。