Literature DB >> 19188083

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Saadet Mercimek-Mahmutoglu1, Adolf Muehl, Gajja S Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu.   

Abstract

High urinary creatine to creatinine ratio (U-CrCrtR) is a potential diagnostic marker of X-linked creatine transporter (SLC6A8) deficiency. We developed a tandem mass-spectrometry method to simultaneously determine urinary creatine and creatinine in 975 individuals (0-18 years). U-CrCrtR increased up to 8 years and decreased thereafter. U-CrCrtR was 2.29 and 2.12 (99th percentile: 1.87) in two males with subsequently confirmed SLC6A8 mutations. The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk.

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Year:  2009        PMID： 19188083     DOI： 10.1016/j.ymgme.2008.12.020

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  8 in total

1.  Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Authors:  Vassili Valayannopoulos; Nathalie Boddaert; Allel Chabli; Valerie Barbier; Isabelle Desguerre; Anne Philippe; Alexandra Afenjar; Michel Mazzuca; David Cheillan; Arnold Munnich; Yves de Keyzer; Cornelis Jakobs; Gajja S Salomons; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2011-06-10       Impact factor: 4.982

Review 2.  X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors:  Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

3.  Improved detection and precise relative quantification of the urinary cancer metabolite biomarkers - Creatine riboside, creatinine riboside, creatine and creatinine by UPLC-ESI-MS/MS: Application to the NCI-Maryland cohort population controls and lung cancer cases.

Authors:  Daxesh P Patel; Gary T Pauly; Takeshi Tada; Amelia L Parker; Leila Toulabi; Yasuyuki Kanke; Takahiro Oike; Kristopher W Krausz; Frank J Gonzalez; Curtis C Harris
Journal:  J Pharm Biomed Anal       Date:  2020-09-01       Impact factor: 3.935

4.  Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

Authors:  Audrey Thurm; Daniel Himelstein; Precilla DʼSouza; Owen Rennert; Susanqi Jiang; Damilola Olatunji; Nicola Longo; Marzia Pasquali; Susan Swedo; Gajja S Salomons; Nuria Carrillo
Journal:  J Dev Behav Pediatr       Date:  2016-05       Impact factor: 2.225

5.  Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  J Daniel Sharer; Olaf Bodamer; Nicola Longo; Silvia Tortorelli; Mirjam M C Wamelink; Sarah Young
Journal:  Genet Med       Date:  2017-01-05       Impact factor: 8.822

6.  Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Authors:  David Cheillan; Marie Joncquel-Chevalier Curt; Gilbert Briand; Gajja S Salomons; Karine Mention-Mulliez; Dries Dobbelaere; Jean-Marie Cuisset; Laurence Lion-François; Vincent Des Portes; Allel Chabli; Vassili Valayannopoulos; Jean-François Benoist; Jean-Marc Pinard; Gilles Simard; Olivier Douay; Kumaran Deiva; Alexandra Afenjar; Delphine Héron; François Rivier; Brigitte Chabrol; Fabienne Prieur; François Cartault; Gaëlle Pitelet; Alice Goldenberg; Soumeya Bekri; Marion Gerard; Richard Delorme; Marc Tardieu; Nicole Porchet; Christine Vianey-Saban; Joseph Vamecq
Journal:  Orphanet J Rare Dis       Date:  2012-12-13       Impact factor: 4.123

7.  Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

Authors:  Maria Antonietta Mencarelli; Maria Tassini; Marzia Pollazzon; Antonio Vivi; Marco Calderisi; Michele Falco; Marco Fichera; Lucia Monti; Sabrina Buoni; Francesca Mari; Udo Engelke; Ron A Wevers; Joussef Hayek; Alessandra Renieri
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

Review 8.  The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Authors:  Clemens V Farr; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Front Synaptic Neurosci       Date:  2020-10-23
  8 in total

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