X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome
X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome
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DOI：
10.1086/320595
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发表时间：
2001-06-01
影响因子：
9.8
通讯作者：
Jakobs, C
中科院分区：
文献类型：
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作者：
Salomons, GS;van Dooren, SJM;Jakobs, C
我们报告了第一例由肌酸转运蛋白缺陷引起的X连锁肌酸缺乏综合征。男性指标患者表现为发育迟缓和低眼压。他大脑的质子磁共振波谱显示没有肌酸信号。然而，尿肌酸和血浆肌酸升高，乙酸胍水平正常。在该指标患者的三名女性亲属中，存在不同程度的轻度生化异常和学习障碍。指标患者的成纤维细胞含有SLC6A8基因的半合子无义突变，并在肌酸摄取方面存在缺陷。这三名女性亲属是SLC6A8的杂合子，该突变已被定位到Xq28。
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and plasma was increased, and guanidinoacetate levels were normal. In three female relatives of the index patient, mild biochemical abnormalities and learning disabilities were present, to various extents. Fibroblasts from the index patient contained a hemizygous nonsense mutation in the gene SLC6A8 and were defective in creatine uptake. The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28.