GLUT1-deficiency syndrome
نویسندگان
چکیده
SyndrĂłm GLUT1 deficiencie je zriedkavĂŠ neurometabolickĂŠ ochorenie mozgu vznikajĂşce pri poruche transportu glukĂłzy cez hematoencefalickĂş bariĂŠru. KeÄĹže mozog takmer Ăşplne zĂĄvislĂ˝ od dodĂĄvky ako hlavnĂŠho zdroja energie a hlavnĂ˝m transportĂŠrom bariĂŠru, klasickĂ˝ typ ochorenia sa prejavuje zĂĄvaĹžnĂ˝mi dĂ´sledkami neuroglykopĂŠnie: vÄasnou neurovĂ˝vojovou encefalopatiou s epileptickĂ˝mi zĂĄchvatmi, zĂskanou mikrocefĂĄliou, kognitĂvnym deficitom rozliÄnĂ˝mi perzistentnĂ˝mi alebo paroxyzmĂĄlnymi motorickĂ˝mi (Äasto komplexnĂ˝mi) prejavmi, ataxia, spasticita dystĂłnia. NajdĂ´leĹžitejĹĄĂm diagnostickĂ˝m krokom dĂ´kaz hypoglykorachie (menej 2,2 mmol/l) v likvore znĂĹženĂŠho pomeru likvor/sĂŠrum (väÄĹĄinou menej neĹž 0,4). DefinitĂvnu diagnĂłzu vĹĄak prinĂĄĹĄa molekulĂĄrne genetickĂŠ vyĹĄetrenie SLC2A1 gĂŠnu. NajĂşÄinnejĹĄou formou lieÄby ketogĂŠnna diĂŠta, ktorej utilizujĂş mastnĂŠ kyseliny nĂĄhradnĂ˝ zdroj pre mozog. Z hÄžadiska prognĂłzy kritickĂ˝m vÄasnĂŠ rozpoznanie tĂ˝m zavedenie ketogĂŠnnej diĂŠty.
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...
متن کاملParoxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
BACKGROUND Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. PHENOMENOLOGY SHOWN Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. EDUCATIONAL VALUE Proper identification of the paroxysmal events and early diagnos...
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...
متن کاملParoxysmal eye–head movements in Glut1 deficiency syndrome
OBJECTIVE To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. RESULTS A documented histor...
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...
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: Neurologie pro praxi
سال: 2022
ISSN: ['1803-5280', '1213-1814']
DOI: https://doi.org/10.36290/neu.2021.076