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Creatine and guanidinoacetate reference values in a French population

Marie Curt David Cheillan 1 Gilbert Briand 2, 3 Gajja Salomons 4 Karine Mention-Mulliez 5, 6 Dries Dobbelaere 7 Jean-Marie Cuisset 8 Laurence Lion-François 9 Vincent Portes Allel Chabli 10 Vassili Valayannopoulos 11 Jean-François Benoist 12 Jean-Marc Pinard 13 Gilles Simard 14 Olivier Douay 6 Kumaran Deiva 15 Marc Tardieu 6 Alexandra Afenjar 16 Delphine Héron 17 Francois Rivier 18 Brigitte Chabrol 19 Fabienne Prieur 20 François Cartault 21 Gaëlle Pitelet 22 Alice Goldenberg 23 Soumeya Bekri 24 Marion Gerard 25 Richard Delorme 26 Nicole Porchet 27 Christine Vianey-Saban 6 Joseph Vamecq 2
Abstract :

Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD), a class of inherited diseases. Their laboratory values in blood and urine may vary with age, requiring that reference normal values are given within the age range. Despite the long known role of creatine for muscle physiology, muscle signs are not necessarily the major complaint expressed by PCDD patients. These disorders drastically affect brain function inducing, in patients, intellectual disability, autistic behavior and other neurological signs (delays in speech and language, epilepsy, ataxia, dystonia and choreoathetosis), being a common feature the drop in brain creatine content. For this reason, screening of PCDD patients has been repeatedly carried out in populations with neurological signs. This report is aimed at providing reference laboratory values and related age ranges found for a large scale population of patients with neurological signs (more than 6 thousand patients) previously serving as a background population for screening French patients with PCDD. These reference laboratory values and age ranges compare rather favorably with literature values for healthy populations. Some differences are also observed, and female participants are discriminated from male participants as regards to urine but not blood values including creatine on creatinine ratio and guanidinoacetate on creatinine ratio values. Such gender differences were previously observed in healthy populations; they might be explained by literature differential effects of testosterone and estrogen in adolescents and adults, and by estrogen effects in prepubertal age on SLC6A8 function. Finally, though they were acquired on a population with neurological signs, the present data might reasonably serve as reference laboratory values in any future medical study exploring abnormalities of creatine metabolism and transport.

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Soumis le : vendredi 2 juillet 2021 - 12:00:20
Dernière modification le : vendredi 20 mai 2022 - 11:06:22


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Marie Curt, David Cheillan, Gilbert Briand, Gajja Salomons, Karine Mention-Mulliez, et al.. Creatine and guanidinoacetate reference values in a French population. Molecular Genetics and Metabolism, Elsevier, 2013, 110 (3), pp.263-267. ⟨10.1016/j.ymgme.2013.09.005⟩. ⟨hal-03276685⟩



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