A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Molecular Genetics and Metabolism

Volumn 91, Issue 1, 2007, Pages 1-6

  Almeida, L S ^a,b   Vilarinho, L ^b   Darmin, P S ^a   Rosenberg, E H ^a   Martinez Munoz C ^a   Jakobs, C ^a   Salomons, G S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

c.59G>C p.Trp20Ser; Carrier rate; Creatine deficiency; GAMT; W20S

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE; SERINE; TRYPTOPHAN;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PORTUGAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSIENT TRANSFECTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; DEFICIENCY DISEASES; DNA MUTATIONAL ANALYSIS; GEOGRAPHY; GUANIDINOACETATE N-METHYLTRANSFERASE; HELA CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; PREVALENCE; SEQUENCE ALIGNMENT; SERINE; TRANSFECTION; TRYPTOPHAN;

EID: 34047254531     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.01.005     Document Type: Article

References (20)

1. Stöckler S., Holzbach U., and Hanefeld F. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr. Res. 36 (1994) 409-413
2. Stöckler S., Isbrandt D., Hanefeld F., Schmidt B., and von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am. J. Hum. Genet. 58 (1996) 914-922
3. Item C.B., Mercimek-Mahmutoglu S., Battini R., Edlinger-Horvat C., Stromberger C., Bodamer O., Mühl A., Vilaseca M.A., Korall H., and Stöckler-Ipsiroglu S. Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum. Mutat. 23 5 (2004) 524
4. Mercimek-Mahmutoglu S., Stöckler-Ipsiroglu S., Adami A., Appleton R., Araújo H., Duran M., Ensenauer R., Fernadez-Alvarez E., Garcia P., Grolik C., Item C.B., Leuzzi V., Marquardt I., Mühl A., Saelke-Kellermann R.A., Schulze A., Salomons G.S., Surtees R., van der Knaap M.S., Vasconcelos R., Vilarinho L., Verhoeven NM., Wilichowski E., and Jakobs C. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 67 3 (2006) 480-484
5. Schulze A., Bachert P., Schlemmer H., Harting I., Polster T., Salomons G.S., Verhoeven N.M., Jakobs C., Fowler B., Hoffmann G.F., and Mayatepek E. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann. Neurol. 53 2 (2003) 248-251
6. Stöckler S., Marescau B., De Deyn P.P., Trijbels J.M., and Hanefeld F. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46 10 (1997) 1189-1193
7. Bodamer O.A., Bloesch S.M., Gregg A.R., Stöckler-Ipsiroglu S., and O'Brien W.E. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin. Chim. Acta 308 (2001) 173-178
8. Carducci C., Santagata S., Leuzzi V., Carducci C., Artiola C., Giovanniello T., Battini R., and Antonozzi I. Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin. Chim. Acta 364 1-2 (2006) 180-187
9. Cognat S., Cheillan D., Piraud M., Roos B., Jakobs C., and Vianey-Saban C. Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry. Clin. Chem. 50 (2004) 1459-1461
10. Verhoeven N.M., Roos B., Struys E.A., Salomons G.S., van der Knaap M.S., and Jakobs C. Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clin. Chem. 50 2 (2004) 441-443
11. Schulze A., Hoffmann G.F., Bachert P., Kirsch S., Salomons G.S., Verhoeven N.M., and Mayatepek E. Pre-symptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 67 4 (2006) 719-721
12. Cheillan D., Salomons G.S., Acquaviva C., Boisson C., Roth P., Cordier M.P., François L., Jakobs C., and Vianney-Saban C. Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid. Clin. Chem. 52 (2006) 775-777
13. Caldeira Araújo H., Smit W., Verhoeven N.M., Salomons G.S., Silva S., Vasconcelos R., Tomás H., Tavares de Almeida I., Jakobs C., and Duran M. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am. J. Med. Genet A. 133 2 (2005) 122-127
14. Almeida L.S., Rosenberg E.H., Martinez-Muñoz C., Verhoeven N.M., Vilarinho L., Jakobs C., and Salomons G.S. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. Mol. Genet. Metab. 89 4 (2006) 392-394
15. Gaspar C., Lopes-Cendes I., Hayes S., Goto J., Arvidsson K., Dias A., Silveira I., Maciel P., Coutinho P., Lima M., Zhou Y.X., Soong B.W., Watanabe M., Giunti P., Stevanin G., Riess O., Sasaki H., Hsieh M., Nicholson G.A., Brunt E., Higgins J.J., Lauritzen M., Tranebjaerg L., Volpini V., Wood N., Ranum L., Tsuji S., Brice A., Sequeiros J., and Rouleau G.A. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am. J. Hum.Genet. 68 2 (2001) 523-528
16. Amaral O., Lacerda L., Marcão A., Pinto E., Tamagnini G., and Sá Miranda M.C. Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. Clin. Genet. 56 1 (1999) 100-102
17. Cardoso M.L., Martins E., Vasconcelos R., Vilarinho L., and Rocha J. Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Hum. Mutat. 14 4 (1999) 355-356
18. Cardoso M.L., Rodrigues M.R., Leao E., Martins E., Diogo L., Rodrigues E., Garcia P., Rolland M.O., and Vilarinho L. The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. Mol. Genet. Metab. 82 4 (2004) 334-338
19. Item C.B., Stöckler-Ipsiroglu S., Willheim C., Mühl A., and Bodamer O.A. Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol. Genet. Metab. 86 (2005) 328-334
20. Kagan R.M., and Clarke S. Widespread occurrence of three sequence motifs in diverse S-adenosylmethionine-dependent methyltransferases suggests a common structure for these enzymes. Arch. Biochem. Biophys. 310 2 (1994) 417-427