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Clin Biochem. 2007 Nov;40(16-17):1328-31. Epub 2007 Aug 10.

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

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1
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.

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.

[Indexed for MEDLINE]

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