Zusammenfassung
Das Glucosetransportprotein Typ 1 (GLUT1) ermöglicht den Transport von Traubenzucker über die Blut-Hirn-Schranke in das Zentralnervensystem. Mutationen im SLC2A1-Gen, das für GLUT1 codiert, führen zu zerebralem Energiemangel und dem klinischen Krankheitsbild des GLUT1-Defizienz-Syndroms (GLUT1-DS). Diese Mutationen sind meist de novo aufgetreten, seltener autosomal-dominant vererbt. Der klassische Phänotyp umfasst primäre globale Retardierung, Epilepsie mit Beginn im Säuglingsalter, Dezeleration des Kopfwachstums und eine ataktisch-dystone Bewegungsstörung. In den letzten Jahren ist zunehmend die erhebliche phänotypische Variabilität des GLUT1-DS erkannt worden. Absence-Epilepsien und andere idiopathische generalisierte Epilepsien mit Beginn im Kleinkindalter, aber auch erst im Erwachsenenalter, reine Bewegungsstörungen wie Ataxie oder Dystonien sowie paroxysmale belastungsinduzierte Dyskinesien ohne Anfälle sind infolge einer GLUT1-Defizienz beschrieben worden. Allen klinischen Formen gemeinsamer Labormarker ist die Reduktion des Liquor-Glucose-Werts mit vermindertem Liquor-Serum-Glucose-Quotienten. Die Behandlung mit ketogener Diät führt zu einer deutlichen Besserung der Anfälle und Bewegungsstörungen.
Abstract
Glucose transport protein type 1 (GLUT1) facilitates transport of glucose from the blood across the blood-brain barrier to the central nervous system. Disruption of this transport results in cerebral energy failure and a clinical condition termed GLUT1 deficiency syndrome (GLUT1-DS) caused by heterozygous mutations in the SLC2A1 gene which encodes for GLUT1. These mutations occur de novo in most patients and are rarely inherited as an autosomal dominant trait. The classic clinical phenotype includes developmental delay, infantile onset epilepsy, deceleration of head growth, and a mixed movement disorder with ataxia, dystonia, and spasticity. Over the past years the variability of signs and symptoms in GLUT1-DS and a spectrum of milder phenotypes have been recognized. Absence epilepsy and other generalized epilepsies with infantile onset or onset in adult age, predominant movement disorder without seizures, and paroxysmal exertion-induced dyskinesia have been described. A common laboratory indication for the diagnosis of all phenotypes is a lowered glucose concentration in cerebrospinal fluid (CSF) with reduced CSF-to-blood glucose ratio. Treatment with a ketogenic diet improves seizures and movement disorders.
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Interessenkonflikt. K. Brockmann gibt an, dass kein Interessenkonflikt besteht. Der Beitrag enthält keine Studien an Menschen oder Tieren.
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Brockmann, K. Klinisches Spektrum des Glucosetransporter-Typ-1-Defizienz-Syndroms. Z. Epileptol. 27, 186–190 (2014). https://doi.org/10.1007/s10309-014-0372-4
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DOI: https://doi.org/10.1007/s10309-014-0372-4