Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene
| العنوان: | Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene |
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| المؤلفون: | Antonella Pini, Antonella Boni, Margherita Santucci, Angelo Russo, Raffaella Vergaro, Tullio Messana |
| المساهمون: | Messana T., Russo A., Vergaro R., Boni A., Santucci M., Pini A. |
| المصدر: | Journal of Pediatric Neurosciences |
| بيانات النشر: | Medknow Publications & Media Pvt Ltd, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Microcephaly, Ataxia, medicine.medical_treatment, SLC2A1 gene, Case Report, 030105 genetics & heredity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, Medicine, business.industry, General Neuroscience, Glucose transporter, medicine.disease, Hypotonia, Endocrinology, Inborn error of metabolism, ketogenic diet, Pediatrics, Perinatology and Child Health, Glucose transporter type 1 deficiency syndrome, movement disorder, medicine.symptom, business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, Ketogenic diet |
| الوصف: | Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood-brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (SLC2A1), encoding the transporter protein. We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period. |
| وصف الملف: | STAMPA |
| اللغة: | English |
| تدمد: | 1998-3948 1817-1745 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2d805029388c1d3e7d5185e681ad08Test http://europepmc.org/articles/PMC6413611Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....fc2d805029388c1d3e7d5185e681ad08 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19983948 18171745 |
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