Authors: Nouioua S, Cheillan D, Zaouidi S, Salomons GS, Amedjout N, Kessaci F, Boulahdour N, Hamadouche T, Tazir M
作者: Nouioua S, Cheillan D, Zaouidi S, Salomons GS, Amedjout N, Kessaci F, Boulahdour N, Hamadouche T, Tazir M
Journal: Neuromuscular Disorders
期刊: 神经肌肉疾病
Publication Date: August 2013
出版日期: 2013年8月
Volume: 23
卷号: 23
Issue: 8
期号: 8
Pages: 670-674
页码: 670-674

Abstract / 摘要

This article reports on two sisters, aged 11 and 6 years, with AGAT deficiency syndrome, the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed significant language delay, progressive proximal muscular weakness in the lower limbs with Gowers sign, and myopathic electromyography. Investigations revealed undetectable guanidinoacetate and low creatine levels in plasma and urine, characteristic findings of AGAT deficiency syndrome. Brain magnetic resonance spectroscopy showed markedly reduced creatine levels. GATM gene sequencing revealed a homozygous missense mutation in exon 4: c.608A>C, (p.Tyr203Ser). Thirteen months after beginning treatment with oral creatine monohydrate (200 mg/kg/day, then 400 mg/kg/day), there was dramatic improvement in muscle strength with disappearance of the Gowers sign in both patients, and mild improvement in language and cognitive functions. AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated with myopathy of unknown etiology. Early diagnosis should lead to creatine supplementation to cure the myopathy and improve language and cognitive function.
这篇文章报道了两名分别为11岁和6岁的姐妹，她们患有AGAT缺乏症，这是最不常见的肌酸缺乏综合征。她们是足月出生于近亲结婚的父母，具有中度发育迟缓。检查显示显著的语言延迟、下肢逐渐的近端肌无力伴Gowers征及肌病性肌电图。通过检测发现血浆和尿液中胍基乙酸不可检测且肌酸水平低，这些都是AGAT缺乏症的特征性发现。脑磁共振波谱分析显示肌酸水平显著降低。GATM基因测序揭示外显子4中存在纯合错义突变c.608A>C（p.Tyr203Ser）。在开始口服肌酸单水合物治疗13个月后，两名患者的肌力显著提高，Gowers征消失，语言和认知功能也有所改善。AGAT缺乏症应在所有伴有语言迟缓和认知障碍并且病因不明的肌病患者中考虑，早期诊断应导致肌酸补充以治愈肌病并改善语言和认知功能。

Phenolic Compounds with CAS Numbers / 酚类化合物及其CAS号

1. 3-Hydroxycinnamic acid (Caffeic acid): CAS No. 331-39-5
   3-羟基肉桂酸（咖啡酸）: CAS号 331-39-5
2. Benzoic acid: CAS No. 65-85-0
   苯甲酸: CAS号 65-85-0
3. Cinnamic acid: CAS No. 140-10-3
   肉桂酸: CAS号 140-10-3