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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 SLC2A1 gene in a preschool Brazilian child with atypical phenotype of GLUT1 deficiency syndrome, characterized by ataxia and mild speech delay. Our study enriches the SLC2A1 gene mutation spectrum and emphasizes the importance of molecular genetic studies for screening patients with neuropsychomotor developmental delay. Sentence take-home message (synopsis) of the article : The study enriches the SLC2A1 gene mutation spectrum and emphasizes the importance of molecular genetic studies for screening patients with neuropsychomotor developmental delay., Competing Interests: No conflict of interest to declare., (© 2024 The Authors. Published by Elsevier Inc.)

Objective: describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria., Methods: this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years; male n  = 8, B6-non-responsive n  = 9 patients), recruited by convenience sampling from patients seen Hospital de Clínicas de Porto Alegre (Brazil), between January 1997 and July 2020. Data on clinical findings, echocardiogram and electrocardiogram were retrieved from medical records., Results: Eight patients presented some abnormalities on echocardiogram ( n  = 6) or electrocardiogram ( n  = 5). The most frequent finding was mild tricuspid regurgitation ( n  = 3), followed by mitral valve prolapse, mild mitral regurgitation, enlarged left atrium and aortic valve sclerosis ( n  = 2 patients each). Aortic root ectasia was found in one patient. Venous thrombosis was reported in six patients: deep vein thrombosis of lower limbs (n = 3), ischaemic stroke ( n  = 1), cerebral venous sinus thrombosis (n = 1) and pulmonary vein thrombosis (n = 1)., Conclusion: mild valvulopathies seen to be common in patients with Classic Homocystinuria, but more studies regarding echocardiogram and electrocardiogram in this population are needed to draw absolute conclusions., (© 2020 Published by Elsevier Inc.)