Treatment Monitoring of Brain Creatine Deficiency Syndromes: A ¹H- and ³¹P-MR Spectroscopy Study

References

1. ↵
   Stöckler S, Holzbach U, Hanefeld F, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994;36:409–13

   CrossRefPubMedWeb of Science
2. ↵
   Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in man. Am J Hum Genet 2001;69:1127–33

   CrossRefPubMedWeb of Science
3. ↵
   Battini R, Leuzzi V, Carducci CA, et al. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Gen Metab 2002;77:326–31

   CrossRefPubMedWeb of Science
4. ↵
   Stöckler S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996;348:789–90

   CrossRefPubMedWeb of Science
5. ↵
   Schulze A, Hess T, Wevers R, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools of a new inborn error of metabolism. J Pediatr 1997;131:626–31

   CrossRefPubMedWeb of Science
6. ↵
   Ganesan V, Johnson A, Connelly A, et al. Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 1997;17:155–57

   CrossRefPubMedWeb of Science
7. Von K Figura, F Hanefeld, D Isbrandt, et al. Guanidinoacetate methyltransferase deficiency. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Basis of Inherited disease, 6th ed. New York: McGraw Hill;2000 :1897–908
8. ↵
   Leuzzi V, Bianchi MC, Tosetti M, et al. Brain creatine depletion: a new case report of guanidinoacetate methyltransferase (improving with creatine supplementation). Neurology 2000;55:1407–09

   Abstract/FREE Full Text
9. ↵
   van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, et al. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol 2000;47:540–43

   CrossRefPubMedWeb of Science
10. ↵
    Schulze A, Bachert P, Schlemmer H, et al. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003;53:248–51

    CrossRefPubMedWeb of Science
11. ↵
    Mori A. Biochemistry and neurotoxicology of guanidino compounds. History and recent advances. Pavlov J Biol Sci 1987;22:85–94

    PubMed
12. ↵
    D’Hooge R, Pei YQ, Marescau B, et al. Convulsive action and toxicity of uremic guanidine compounds: behavioral assessment and relation to brain concentration in adult mice. J Neurol Sci 1992;112:96–115

    CrossRefPubMedWeb of Science
13. ↵
    Zugno AI, Franzon R, Chiarani F, et al. Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na⁺,K^+-ATPase activity. Int J Dev Neurosci 2004;22:191–96

    PubMed
14. ↵
    Cecil KM, Salomons GS, Ball WS Jr., et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? Ann Neurol 2001;49:401–04

    CrossRefPubMedWeb of Science
15. Salomons GS, van Dooren SJ, Verhoeven NM, et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001;68:1497–500

    CrossRefPubMedWeb of Science
16. ↵
    deGrauw TJ, Salomons GS, Cecil KM, et al. Congenital creatine transporter deficiency. Neuropediatrics 2002;33:232–38

    CrossRefPubMed
17. ↵
    Verhoeven NM, Salomons GS, Jakobs C. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta 2005;361:1–9

    PubMed
18. ↵
    Leuzzi V. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis and treatment. J Child Neurol 2002;17 (Suppl 3):S89–97
19. Schulze A. Creatine deficiency syndromes. Mol Cell Biochem 2003;244:143–50

    CrossRefPubMedWeb of Science
20. ↵
    Schulze A, Ebinger F, Rating D, et al. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 2001;74:413–19

    CrossRefPubMedWeb of Science
21. ↵
    Bianchi MC, Tosetti M, Fornai F, et al. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 2000;47:511–13

    CrossRefPubMedWeb of Science
22. ↵
    Chae YJ, Chung CE, Kim BJ, et al. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. Genomics 1998;49:162–64

    CrossRefPubMedWeb of Science
23. ↵
    Gregor P, Nash SR, Caron MG, et al. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 1995;25:332–33

    CrossRefPubMedWeb of Science
24. ↵
    Wyss M, Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol Rev 2000;80:1107–213

    Abstract/FREE Full Text
25. ↵
    Leuzzi V, Carducci C, Bianchi MC, et al. A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain ¹H-³¹P-magnetic resonance spectroscopy (MRS) features. IX International Congress on Inborn Errors of Metabolism; 2–6 September2003; Brisbane, Australia.
26. ↵
    Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672–79

    CrossRefPubMedWeb of Science
27. ↵
    de Graaf RA. In Vivo NMR Spectroscopy: Principles and Technique. Chichester, UK: Wiley & Sons Ltd;1998 :61–67
28. ↵
    Schirmer T, Auer DP. On the reliability of quantitative clinical magnetic resonance spectroscopy of the human brain. NMR Biomed 2000;13:28–36

    CrossRefPubMedWeb of Science
29. ↵
    Carducci Ca, Leuzzi V, Carducci Cl, et al. Two new severe mutations causing guanidinoacetate methyltransferase deficiency. Mol Gen Metab 2000;71:633–38

    CrossRefPubMedWeb of Science
30. ↵
    Frahm J, Requardt M, Helms G, et al. Creatine deficiency in the brain: a new treatable inborn error of metabolism identified by proton and phosphorus MR spectroscopy in vivo. In: Proceedings of the Second Annual Meeting of the Society of Magnetic Resonance, San Francisco, Calif, August 16–19,1994
31. ↵
    Renema WK, Schmidt A, van Asten JJ, et al. MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency. Magn Reson Med 2003;50:936–43

    CrossRefPubMedWeb of Science
32. ↵
    Schmidt A, Marescau B, Boehm EA, et al. Severey altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet 2004;13:905–21

    Abstract/FREE Full Text
33. ↵
    Braissant O, Henry H, Loup M, et al. Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Mol Brain Res 2001;86:193–201

    PubMed
34. ↵
    Wallimann T, Wyss M, Brdiczka D, et al. 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 1992;281:21–40

    FREE Full Text
35. ↵
    Wallimann T, Hemmer W. Creatine kinase in non-muscle tissues and cells. Mol and Cell Biochem 1994;133–134:193–220
36. ↵
    Ohtsuki S, Tachikawa M, Takanaga H, et al. The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab 2002;22:1327–35

    CrossRefPubMedWeb of Science
37. ↵
    Pettegrew J, Minshew NJ, Diehl J, et al. Anatomical considerations for interpreting topical 31P-NMR. Lancet 1983;2(8355):913
38. ↵
    Tofts PS, Cady EB, Delpy DT, et al. Surface coil NMR spectroscopy of brain. Lancet 1984;i:459
39. ↵
    Pritchard NR, Kalra PA. Renal dysfunction accompanying oral creatine supplements. Lancet 1998;351:1252–53

    CrossRefPubMedWeb of Science
40. Koshy KM, Griswold E, Schneeberger EE. Interstitial nephritis in a patient taking creatine. N Engl J Med 1999;340:814–15

    CrossRefPubMedWeb of Science
41. ↵
    Persky AM, Brazeau GA. Clinical pharmacology of the dietary supplement creatine monohydrate. Pharmacol Rev 2001;53:161–76

    Abstract/FREE Full Text