Clinical Aspects of Glucose Transporter Type 1 Deficiency
نویسندگان
چکیده
منابع مشابه
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy con...
متن کاملGlucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients...
متن کاملIntermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome.
A 4-year-old girl, born to healthy non consanguineous parents after an uneventful pregnancy and delivery with normal birth weight, presented with history of absence seizures and ataxia since 7 months of age. Absence seizures and ataxia were worse in the fasting state. She was otherwise able to walk and run, and had a normal speech. On examination, she had microcephaly (head circumference 46 cm)...
متن کاملGLUT1 deficiency and other glucose transporter diseases.
We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as t...
متن کاملGlut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut-1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype-phenotype correlation,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2017
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2017.0298