The expanding phenotype of GLUT1-deficiency syndrome
The expanding phenotype of GLUT1-deficiency syndrome
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DOI：
10.1016/j.braindev.2009.02.008
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发表时间：
2009-08-01
影响因子：
1.7
通讯作者：
Brockmann, Knut
中科院分区：
文献类型：
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作者：
Brockmann, Knut
葡萄糖从血液中通过血脑屏障转运到中枢神经系统是由葡萄糖转运蛋白I型（GLUT1）促进的，它是溶质载体家族2 （SLC2）的第一个成员。GLUT1/SLC2A1基因的杂合突变，无论是从头发生还是作为常染色体显性性状遗传，都会导致脑能衰竭和一种称为GLUT1缺乏症（GLUT1- ds）的临床症状。临床特征通常包括运动和智力发育迟缓，婴儿期癫痫发作，头部生长减速，常导致获得性小头畸形，运动障碍伴共济失调、肌张力障碍和痉挛。随着这一经典表型的描述，GLUT1-DS的体征和症状的可变性正在被认识到。有(i)糖反应性症状，（ii）共济失调或肌张力障碍为主，但无癫痫发作，以及（iii）阵发性用力引起的运动障碍和癫痫发作的患者报道。所有表型的共同实验室标志是脑脊液中葡萄糖水平降低，csf与血糖比值降低。生酮饮食治疗可显著改善癫痫发作和运动障碍。(C) 2009 Elsevier B.V.版权所有
Transport of glucose from the bloodstream across the blood-brain barrier to the central nervous system is facilitated by glucose transport protein type I (GLUT1), the first member of the solute carrier family 2 (SLC2). Heterozygous Mutations in the GLUT1/SLC2A1 gene, occurring de novo or inherited as in autosomal dominant trait, result in cerebral energy failure and a clinical condition termed GLUT1-deficiency syndrome (GLUT1-DS). Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. Subsequent to the delineation of this classic phenotype the variability of signs and symptoms in GLUT1-DS is being recognized. Patients with (i) carbohydrate-responsive symptoms, with (ii) predominant ataxia or dystonia, but without seizures, and with (iii) paroxysmal exertion-induced dyskinesia and seizures have been reported. Common laboratory hallmark in all phenotypes is the reduced glucose level in cerebrospinal fluid with lowered CSF-to-blood glucose ratio. Treatment with a ketogenic diet results in marked improvement of seizures and movement disorders. (C) 2009 Elsevier B.V. All rights reserved.