deGrauw T J, Salomons G S, Cecil K M, Chuck G, Newmeyer A, Schapiro M B, Jakobs C
Division of Neurology, Cincinnati Children's Hospital Medical Center and College of Medicine, University of Cincinnati, Ohio 45229-3039, USA.
Neuropediatrics. 2002 Oct;33(5):232-8. doi: 10.1055/s-2002-36743.
Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome.
Proton MR spectroscopy was used to recognize creatine deficiency in the patients. Molecular analysis of the SLC6A8 gene was performed, confirming the diagnosis of homozygous males and heterozygous females.
We describe four families from a metropolitan area in the U. S. with X-linked creatine transporter deficiency. All affected males present with developmental delay and severe developmental language impairment. Proton MR spectroscopy shows significantly depressed to essentially absent creatine and phosphocreatine in the male patients. Nonsense mutations and amino acid deletions were found in the SLC6A8 gene in the affected families.
Creatine transporter deficiency may be a more common X-linked genetic disorder than originally presumed. The affected males exhibit mental retardation with severe expressive language impairment.
已确认两种肌酸合成的先天性代谢缺陷以及X连锁肌酸转运体（SLC6A8）缺乏症。本报告描述了5例已确诊的男性患者及其女性亲属的特征，这些女性亲属是X连锁肌酸转运体缺乏综合征的携带者。
使用质子磁共振波谱法识别患者中的肌酸缺乏症。对SLC6A8基因进行分子分析，确诊纯合子男性和杂合子女性。
我们描述了来自美国一个大都市地区的4个患有X连锁肌酸转运体缺乏症的家庭。所有受影响的男性均表现出发育迟缓以及严重的发育性语言障碍。质子磁共振波谱显示男性患者中的肌酸和磷酸肌酸显著降低甚至基本缺失。在受影响的家庭中，SLC6A8基因发现了无义突变和氨基酸缺失。
肌酸转运体缺乏症可能是一种比最初推测更为常见的X连锁遗传病。受影响的男性表现出智力迟钝并伴有严重的表达性语言障碍。
