Jeavons syndrome in a family with GLUT1-deficiency syndrome
نویسندگان
چکیده
منابع مشابه
Report on GLUT1 Deficiency Syndrome Conference
Dr. D.C. de Vivo (Professor of Pediatrics, Colombia University, New York) opens the conference with an overview on GLUT1 deficiency syndrome (GLUT1DS) from 1991, when diagnosis of GLUT1DS was first made, until now. He describes the process of glucose metabolism in the brain. Glucose is transported across the blood-brain barrier into astrocytes and neurons by GLUT1 and GLUT3. In astrocytes, gluc...
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All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...
متن کاملUse of dietary therapies amongst patients with GLUT1 deficiency syndrome
PURPOSE GLUT-1 deficiency syndrome (GLUT1DS) is a neurologic disorder manifesting as epilepsy, abnormal movements, and cognitive delay. The currently accepted treatment of choice is the classic 4:1 ratio ketogenic diet. METHODS A 2-page survey was distributed to all attendees of a family-centered conference for GLUT1DS in July 2015. The surveys were completed by parents, collected anonymously...
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متن کاملDietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome.
OPINION STATEMENT GLUT1 deficiency syndrome (GLUT1DS) results from impaired glucose transport into the brain: awareness of its wide phenotypic spectrum is a prerequisite in order to ensure an early diagnosis, treating the patients is the subsequent challenge to allow prompt compensation for the brain's lack of fuel. The ketogenic diet (KD) plays a primary role in the treatment of GLUT1DS becaus...
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ژورنال
عنوان ژورنال: Seizure
سال: 2019
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2019.07.011