title: Novel mutation in a patient with late onset GLUT1 deficiency syndrome.
abstract: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis. This case report describes a patient with late onset GLUT1-DS with a novel sporadic mutation c.539T>A, p.Met180Lys in exon 5 of the SLC2A1 gene. The dominating clinical features were epilepsy and paroxysmal dyskinesias provoked by infection, emotional stress and fasting. The ictal EEG was characterized by generalized paroxysmal 3-3.5Hz spike-slow wave complexes (absences). Treatment with ketogenic diet showed clinical improvement with the reduction of paroxysmal dyskinesias.
authors.affiliation: Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania. Electronic address: sandra.melnik10@gmail.com.
authors.forename: Sandra
authors.initials: S
authors.lastname: Juozapaite
authors.affiliation: Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania.
authors.forename: Ruta
authors.initials: R
authors.lastname: Praninskiene
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania; Center for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius 08661, Lithuania.
authors.forename: Birute
authors.initials: B
authors.lastname: Burnyte
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania; Center for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius 08661, Lithuania.
authors.forename: Laima
authors.initials: L
authors.lastname: Ambrozaityte
authors.affiliation: Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 7, Vilnius 08406, Lithuania; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, M. K. Ciurlionio st. 21, Vilnius 03101, Lithuania.
authors.forename: Birute
authors.initials: B
authors.lastname: Skerliene
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human
keywords: Glucose transporter 1 deficiency syndrome; Ketogenic diet; Movement disorder; Paroxysmal dyskinesia; SLC2A1 gene