Literature DB >> 15234334

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Lígia S Almeida1, Nanda M Verhoeven, Birthe Roos, Carla Valongo, Maria Luis Cardoso, Laura Vilarinho, Gajja S Salomons, Cornelis Jakobs.   

Abstract

In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma, and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas chromatography-mass spectrometry. Both compounds were analyzed in a single analysis. Reference values were established for GAA and Cr. These values were age dependent. No differences with gender were observed. Eight guanidinoacetate methyltransferase (GAMT) deficient patients and eight creatine transporter SLC6A8 deficient patients were investigated. In urine, plasma, and CSF of GAMT deficient patients increased levels of GAA are present. The SLC6A8 deficient patients all show increased creatine/creatinine (Cr/Crn) ratio in urine demonstrating the importance of the Cr/Crn ratio as a pathognomonic marker of the SLC6A8 deficiency.

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Year:  2004        PMID： 15234334     DOI： 10.1016/j.ymgme.2004.05.001

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


  35 in total

1.  Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Authors:  Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul-Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

2.  Characterization of AGAT, GAMT and CT1 in amphioxus: implications for the evolutionary conservation of creatine metabolism related molecules at the invertebrate-to-vertebrate transition.

Authors:  Lifeng Wang; Dongyan Chen; Ying Zhang; Yushuang Lin; Jianwei Li; Hongwei Zhang
Journal:  Dev Genes Evol       Date:  2008-09-05       Impact factor: 0.900

3.  Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Authors:  Lars R Jensen; Wei Chen; Bettina Moser; Bettina Lipkowitz; Christopher Schroeder; Luciana Musante; Andreas Tzschach; Vera M Kalscheuer; Ilaria Meloni; Martine Raynaud; Hilde van Esch; Jamel Chelly; Arjan P M de Brouwer; Anna Hackett; Sigrun van der Haar; Wolfram Henn; Jozef Gecz; Olaf Riess; Michael Bonin; Richard Reinhardt; Hans-Hilger Ropers; Andreas W Kuss
Journal:  Eur J Hum Genet       Date:  2011-01-26       Impact factor: 4.246

4.  X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Authors:  Amy J Clark; Efraim H Rosenberg; Ligia S Almeida; Tim C Wood; Cornelis Jakobs; Roger E Stevenson; Charles E Schwartz; Gajja S Salomons
Journal:  Hum Genet       Date:  2006-04-26       Impact factor: 4.132

5.  X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

Authors:  Maria C Schiaffino; Carlo Bellini; Laura Costabello; Ubaldo Caruso; Cornelis Jakobs; Gajja S Salomons; Eugenio Bonioli
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

6.  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 7.  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

8.  Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Authors:  Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H Rosenberg; Arjan P M de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Journal:  Neurogenetics       Date:  2008-03-19       Impact factor: 2.660

9.  A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Authors:  S Dreha-Kulaczewski; V Kalscheuer; A Tzschach; H Hu; G Helms; K Brockmann; A Weddige; P Dechent; G Schlüter; R Krätzner; H-H Ropers; J Gärtner; B Zirn
Journal:  JIMD Rep       Date:  2013-11-05

10.  Simultaneous assay of isotopic enrichment and concentration of guanidinoacetate and creatine by gas chromatography-mass spectrometry.

Authors:  Takhar Kasumov; Lourdes L Gruca; Srinivasan Dasarathy; Satish C Kalhan
Journal:  Anal Biochem       Date:  2009-07-29       Impact factor: 3.365
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