Sobrinho Lívia Maria Ferreira, Silva Thiago Oliveira, Refosco Lilia Farret, Poloni Soraia, Poswar Fabiano Oliveira, de Souza Carolina Fischinger Moura, Sperb-Ludwig Fernanda, Schwartz Ida Vanessa Doederlein
Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Department of Pediatrics, School of Medicine, Federal University of Minas Gerais, Minas Gerais, Brazil.
Mol Genet Metab Rep. 2024 Nov 19;41:101164. doi: 10.1016/j.ymgmr.2024.101164. eCollection 2024 Dec.
Glucose transporter type 1 deficiency syndrome (GLUT1) is a genetic condition, most often of autosomal dominant inheritance, and corresponds to a broad spectrum of signs and symptoms due to hypoglycorrhachia, which include seizures, delay in neuropsychomotor development, intellectual disability, movement disorders, dysarthria and postnatal microcephaly. The severity of symptoms are variable. Symptomatic treatment consists of the ketogenic diet, which allows energy supply to the brain through sustained and continuous ketosis. In this study, we report a novel heterozygous frameshift variant (c.855_856insTT; p.Gly286Leufs*55) in the gene in a preschool Brazilian child with atypical phenotype of GLUT1 deficiency syndrome, characterized by ataxia and mild speech delay. Our study enriches the gene mutation spectrum and emphasizes the importance of molecular genetic studies for screening patients with neuropsychomotor developmental delay. : The study enriches the gene mutation spectrum and emphasizes the importance of molecular genetic studies for screening patients with neuropsychomotor developmental delay.
1型葡萄糖转运体缺乏综合征（GLUT1）是一种遗传性疾病，多为常染色体显性遗传，因脑脊液低糖血症可导致一系列广泛的体征和症状，包括癫痫发作、神经精神运动发育迟缓、智力残疾、运动障碍、构音障碍和出生后小头畸形。症状的严重程度各不相同。对症治疗包括生酮饮食，通过持续的酮症为大脑提供能量。在本研究中，我们报告了一名患有GLUT1缺乏综合征非典型表型的巴西学龄前儿童，其基因中存在一种新的杂合移码变异（c.855_856insTT；p.Gly286Leufs*55），其特征为共济失调和轻度语言发育迟缓。我们的研究丰富了基因突变谱，并强调了分子遗传学研究在筛查神经精神运动发育迟缓患者中的重要性。：该研究丰富了基因突变谱，并强调了分子遗传学研究在筛查神经精神运动发育迟缓患者中的重要性。
