Arias Angela, Corbella Marc, Fons Carmen, Sempere Angela, García-Villoria Judit, Ormazabal Aida, Poo Pilar, Pineda Mercé, Vilaseca María Antonia, Campistol Jaume, Briones Paz, Pàmpols Teresa, Salomons Gajja S, Ribes Antonia, Artuch Rafael
Institut de Bioquímica Clínica, Servicio de Bioquímica y Genética Molecular, Hospital Clínic and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10.
To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall.
We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.
Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test: p<0.005).
False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.
报告智力迟钝男性中肌酸转运体缺乏症的患病率，并研究富含蛋白质的食物摄入是否可能成为潜在的诊断陷阱。
我们测定了1600名无亲缘关系的智力迟钝和/或自闭症男性患者尿液样本中的肌酸/肌酐比值。通过高效液相色谱-串联质谱法分析尿肌酸。
1600例中有33例尿肌酸/肌酐比值升高。这33例中有4例被明确诊断为肌酸转运体缺乏症，而其他29例为假阳性结果。与以鸡蛋、意大利面或沙拉为基础的餐食相比，食用牛肉或油性鱼类餐食后，健康志愿者的尿Cr/Crn比值显著更高（Wilcoxon检验：p<0.005）。
在肌酸转运体缺乏症的生化筛查中可能会出现假阳性结果，这可能是由于在尿液样本分析前摄入了富含肌酸的食物。
