肌酸转运体缺乏症：智力发育迟缓患者中的患病率及代谢物筛查中的陷阱

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

作者信息

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

机构信息

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.

出版信息

Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10.

DOI:10.1016/j.clinbiochem.2007.07.010

PMID:17825809

Abstract

OBJECTIVES

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.

DESIGN AND METHODS

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.

RESULTS

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).

CONCLUSIONS

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.

摘要