Methods for the diagnosis of creatine deficiency syndromes: a comparative study

Journal of Neuroscience Methods
A AriasAntonia Ribes

Abstract

The increasing number of patients with creatine deficiency syndromes (CDS) stresses the need to develop screening procedures for the identification these inherited disorders. Guanidinoacetate (GAA) and creatine (Cr) are reliable biochemical markers of CDS and several analytical methods to measure both metabolites have been developed. High-pressure liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) is quick and sensitive but, unlike HPLC and gas chromatography-mass spectrometry (GC/MS), it is unavailable in most laboratories. Thus, we decided to evaluate comparatively HPLC-MS/MS, GC/MS and HPLC methods, as well as to establish reference values in a healthy paediatric population. According to our results, these three methods may be suitable for analysing GAA in urine. Furthermore, Passing-Bablock plots showed good agreement among all three. However, when comparing the Cr/Crn ratio, our results revealed that while HPLC-MS/MS data were in agreement with those of GC/MS, a constant and proportional error was observed when compared with those of HPLC. Consequently, the Cr/Crn ratio obtained by the last method should be evaluated with caution. Our reference values for GAA and Cr/Crn ratio in urine negatively correlate with age...Continue Reading

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Jul 6, 2004·Molecular Genetics and Metabolism·Lígia S AlmeidaCornelis Jakobs
Jul 6, 2004·Molecular Genetics and Metabolism·Angela AriasAntonia Ribes
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Citations

Oct 18, 2008·Journal of Inherited Metabolic Disease·C FonsJ Campistol
Mar 26, 2009·Journal of Inherited Metabolic Disease·A SempereJ Campistol
Jan 6, 2010·Journal of Inherited Metabolic Disease·Angela SempereJaume Campistol
May 3, 2014·Journal of Inherited Metabolic Disease·Jiddeke M van de KampGajja S Salomons
Jan 15, 2013·Molecular Genetics and Metabolism·Sonia PajaresAntonia Ribes
Feb 18, 2010·Pediatric Neurology·Fahmi NasrallahNaziha Kaabachi
Nov 7, 2009·Medicina clínica·Angela SempereRafael Artuch
Nov 11, 2008·Clinical Biochemistry·José Angel PrietoLuís Aldámiz-Echevarría
Oct 5, 2013·Molecular Genetics and Metabolism·Marie Joncquel-Chevalier CurtJoseph Vamecq
Apr 3, 2016·Journal of Inherited Metabolic Disease·Martina HuemerDaniela Karall

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