Creatine transporter deficiency in two half-brothers

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1979-1983

  Ardon, Orly ^a   Di San Filippo, Cristina Amat ^b   Salomons, Gajja S ^c   Longo, Nicola ^a,b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine deficiency; Creatine transport; Creatine transporter deficiency; Human fibroblasts; SLC6A8

Indexed keywords

ANTICONVULSIVE AGENT; CARRIER PROTEIN; CREATININE;

ARTICLE; CASE REPORT; CHILD; CREATINE DEFICIENCY; CREATININE TRANSPORTER DEFICIENCY; FRAMESHIFT MUTATION; GENE; GENE DELETION; HEMIZYGOSITY; HUMAN; MACROCEPHALY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; SEIZURE; SLC6A8 GENE; X CHROMOSOME LINKED DISORDER;

BRAIN; CELLS, CULTURED; CHILD; CREATINE; FEMALE; FIBROBLASTS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; NERVE TISSUE PROTEINS; PEDIGREE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SYNDROME;

EID: 77955294263     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33551     Document Type: Article

References (23)

1. Amat di San Filippo C, Longo N. 2004. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem 279:7247-7253.
2. Amat di San Filippo C, Wang Y, Longo N. 2003. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem 278:47776-47784.
3. Arias A, Corbella M, Fons C, Sempere A, Garcia-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pampols T, Salomons GS, Ribes A, Artuch R. 2007. Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem 40:1328-1331.
4. Betsalel OT, van de Kamp JM, Martinez-Munoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. 2008. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 9:183-190.
5. Brosnan JT, Brosnan ME. 2007. Creatine: Endogenous metabolite, dietary, and therapeutic supplement. Annu Rev Nutr 27:241-261.
6. Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G. 2008. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 14:151-161.
7. Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. 2006. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 119:604-610.
8. Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST. 1995. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 25:332-333.
9. Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. 2002. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 70:1349-1356.
10. Lion-Francois L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gerard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V. 2006. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67:1713-1714.
11. Longo N, Langley SD, Still MJ. 1998. Role of arginine 86 of the insulin receptor in insulin binding and activation of glucose transport. Biochim Biophys Acta 1402:86-94.
12. Martinez-Munoz C, Rosenberg EH, Jakobs C, Salomons GS. 2008. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. Gene 418:53-59.
13. Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ. 2005. Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr 26:276-282.
14. Puusepp H, Kall K, Salomons GS, Talvik I, Mannamaa M, Rein R, Jakobs C, Ounap K. 2009. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. J Inherit Metab Dis short report #147 (ONLINE).
15. Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. 2004. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75:97-105.
16. Rosenberg EH, Martinez Munoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. 2007. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): Improved diagnostic application. Hum Mutat 28:890-896.
17. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. 2001. X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 68:1497-1500.
18. Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. 2003. X-linked creatine transporter defect: An overview. J Inherit Metab Dis 26:309-318.
19. Stockler S, Schutz PW, Salomons GS. 2007. Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149-166.
20. Straumann N, Wind A, Leuenberger T, Wallimann T. 2006. Effects of N-linked glycosylation on the creatine transporter. Biochem J 393:459-469.
21. Verhoeven NM, Salomons GS, Jakobs C. 2005. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta 361:1-9.
22. Wallimann T, Wyss M, Brdiczka D, Nicolay K, Eppenberger HM. 1992. Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: The 'phosphocreatine circuit' for cellular energy homeostasis. Biochem J 281:21-40.
23. Wyss M, Kaddurah-Daouk R. 2000. Creatine and creatinine metabolism. Physiol Rev 80:1107-1213.