Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects

Molecular Genetics and Metabolism
A AriasA Ribes

Abstract

We established an analytical methodology for guanidinoacetate and creatine determination by gas chromatography-mass spectrometry with the use of stable isotopes as internal standards. The method showed good precision and high sensitivity, and it requires minimal sample handling. We determined the reference values in urine and plasma. In urine both guanidinoacetate concentration and creatine/creatinine ratio decrease as age increases, but no significant differences were found in plasma. In addition, 15 patients with urea cycle defects were analysed and showed low guanidinoacetate concentrations when compared with age-matched controls. We concluded that guanidinoacetate concentration is a parameter to be considered in the follow-up of patients with urea cycle defects, and arginine should be supplemented in sufficient amounts, as the brain seems to be impermeable to creatine influx, but not to its precursor, arginine, which is needed for creatine, protein, and NO synthesis.

Citations

Aug 25, 2005·Journal of Medical Genetics·F L Raymond
Apr 8, 2006·Journal of Inherited Metabolic Disease·P Póo-ArgüellesG Salomons
Dec 1, 2010·Journal of Inherited Metabolic Disease·H PuuseppK Õunap
May 31, 2012·Journal of Inherited Metabolic Disease·Sara BoenziCarlo Dionisi-Vici
Mar 10, 2011·Amino Acids·John T BrosnanMargaret E Brosnan
Dec 14, 2012·Orphanet Journal of Rare Diseases·David CheillanJoseph Vamecq
Jul 8, 2010·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Fernando AndradeLuis Aldámiz-Echevarría
Feb 18, 2010·Pediatric Neurology·Fahmi NasrallahNaziha Kaabachi
Mar 23, 2010·Molecular Genetics and Metabolism·John T Brosnan, Margaret E Brosnan
Apr 7, 2009·Molecular Genetics and Metabolism·V ValayannopoulosP de Lonlay
Nov 7, 2015·Biochimie·Marie Joncquel-Chevalier CurtJoseph Vamecq
Jul 22, 2008·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·David ComanAvihu Boneh
Sep 4, 2007·Pediatric Neurology·Emmanuel RozeRemy Guillevin
Feb 12, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ayelet ErezBrendan Lee
Apr 20, 2006·Journal of Neuroscience Methods·Angela AriasAntonia Ribes
Dec 14, 2005·Molecular Genetics and Metabolism·P E SijensF J van Spronsen
Feb 7, 2019·Journal of Inherited Metabolic Disease·Julien BaruteauJohannes Häberle
Apr 9, 2008·Pediatric Research·Fernando AndradeLuis Aldámiz-Echevarría
Apr 16, 2019·Journal of Inherited Metabolic Disease·Johannes HäberleCarlo Dionisi-Vici
Oct 12, 2007·American Journal of Physiology. Renal Physiology·Erica E EdisonJohn T Brosnan
Sep 3, 2021·Molecular Genetics and Metabolism Reports·Filippo IngogliaNicola Longo
Jun 9, 2009·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Jian-Fei XiaGuo-An Luo

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