Glucose transporter type 1 deficiency syndrome and the ketogenic diet
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 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 کاملA ketogenic diet increases brain insulin-like growth factor receptor and glucose transporter gene expression.
A ketogenic diet suppresses seizure activity in children and in juvenile rats. To investigate whether alteration in brain IGF activity could be involved in the beneficial effects of the ketogenic diet, we examined the effects of this diet on IGF system gene expression in the rat brain. Juvenile rats were fed one of three different diets for 7 d: ad libitum standard rat chow (AL-Std), calorie-re...
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 کاملKetogenic diet in patients with Dravet syndrome.
PURPOSE The ketogenic diet (KD) has been used as a therapeutic alternative to antiepileptic drugs (AEDs) for refractory epilepsy. Severe myoclonic epilepsy in infants or Dravet syndrome (DS) is one of the most malignant epileptic syndromes. In this retrospective study, we evaluated the efficacy and tolerability of the KD in patients with diagnostic criteria of DS. METHODS Between March 1, 199...
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: Journal of Inherited Metabolic Disease
سال: 2019
ISSN: 0141-8955,1573-2665
DOI: 10.1002/jimd.12175