Reduced brain choline in homocystinuria due to remethylation defects

Neurology

Volumn 71, Issue 1, 2008, Pages 44-49

  Debray, F G ^a   Boulanger, Y ^e   Khiat, A ^e   Decarie, J C ^c   Orquin, J ^c   Roy, M S ^c   Lortie, A ^b   Ramos, F ^c   Verhoeven, N M ^f   Struys, E ^f   Blom, H J ^f   Jakobs, C ^f   Levy, E ^d   Mitchell, G A ^a   Lambert, M ^a,c  

^a Medical Genetics   (Canada)

^b Department of Pediatrics

^c UNIVERSITY OF MONTREAL   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITY OF MONTREAL   (Canada)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CREATINE; N ACETYLASPARTIC ACID; S ADENOSYLMETHIONINE; ASPARTIC ACID; DRUG DERIVATIVE; HOMOCYSTEINE METHYLTRANSFERASE; N-ACETYLASPARTATE;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID SYNTHESIS; AMINO ACID URINE LEVEL; ARTICLE; BRAIN LEVEL; BRAIN REGION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; HOMOCYSTINURIA; HUMAN; METHYLATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THALAMUS; URINARY EXCRETION; VITAMIN DEFICIENCY; WHITE MATTER; BLOOD; BRAIN; FEMALE; MALE; METABOLISM; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOPHYSIOLOGY; PHYSIOLOGY; URINE;

ADOLESCENT; ADULT; ASPARTIC ACID; BRAIN; BRAIN CHEMISTRY; CHILD; CHILD, PRESCHOOL; CHOLINE; CHOLINE DEFICIENCY; CREATINE; FEMALE; HOMOCYSTEINE S-METHYLTRANSFERASE; HOMOCYSTINURIA; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; METHYLATION; S-ADENOSYLMETHIONINE;

EID: 48249122767     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000316391.40236.c3     Document Type: Article

References (28)

1. Rosenblatt DS, Fenton WA. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001:3897-3933.
2. Rosenblatt DS, Aspler AL, Shevell MI, et al. Clinical heterogeneity and prognosis in combined methylmalonic aci-duria and homocystinuria (cblC). J Inherit Metab Dis 1997;20:528-538.
3. Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J. Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 1998;157:S77-S83.
4. Wyss M, Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol Rev 2000;80:1107-1213.
5. Clarke S, Banfield K. S-adenosylmethionine-dependent methyltransferases. In: Carmel R, Jacobsen DW, eds. Ho-mocystine in Health and Disease. Cambridge, UK: Cambridge University Press, 2001:63-78.
6. Watkins D. Cobalamin metabolism in methionine-dependent human tumor and leukemia cell lines. Clin Invest Med 1998;21:151-158.
7. Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and ho-mocystinuria, cblC type. Nat Genet 2006;38:93-100.
8. Provencher SW. Automatic quantitation of localized in vivo 1H spectra with the LCModel. NMR Biomed 2001; 14:260-264.
9. Gellekink H, van Oppenraaij-Emmerzaal D, van Rooij A, Struys EA, den Heijer M, Blom HJ. Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma. Clin Chem 2005;51:1487-1492.
10. Valongo C, Cardoso ML, Domingues P, et al. Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry. Clin Chim Acta 2004;348:155-161.
11. Almeida LS, Verhoeven NM, Roos B, et al. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 2004;82:214-219.
12. Newcombe RG, Altman DG. Proportions and their differences. In: Altman DJ, Machin D, Bryant TN, Gardner MJ, eds. Statistics with Confidence. London: BMJ Books, 2000:45-56.
13. Katz JE, Dlakic M, Clarke S. Automated identification of putative methyltransferases from genomic open reading frames. Mol Cell Proteomics 2003;2:525-540.
14. Näntö-Salonen K, Komu M, Lundbom N, et al. Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology 1999; 53:303-307.
15. Sipila I, Rapola J, Simell O, Vannas A. Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina. N Engl J Med 1981;304:867-870.
16. Bodamer OA, Sahoo T, Beaudet AL, et al. Creatine metabolism in combined methylmalonic aciduria and homo-cystinuria. Ann Neurol 2005;57:557-560.
17. Mudd SH, Poole JR. Labile methyl balances for normal humans on various dietary regimens. Metabolism 1975; 24:721-735.
18. Mudd SH, Ebert MH, Scriver CR. Labile methyl group balances in the human: the role of sarcosine. Metabolism 1980;29:707-720.
19. Noga AA, Stead LM, Zhao Y, Brosnan ME, Brosnan JT, Vance DE. Plasma homocysteine is regulated by phospho-lipid methylation. J Biol Chem 2003;278:5952-5955.
20. Stead LM, Brosnan JT, Brosnan ME, Vance DE, Jacobs RL. Is it time to reevaluate methyl balance in humans? Am J Clin Nutr 2006;83:5-10.
21. Boulanger Y, Labelle M, Khiat A. Role of phospholipase A2 on the variation of the choline signal intensity observed by 1H magnetic resonance spectroscopy in brain diseases. Brain Res Rev 2000;33:380-389.
22. Vos JP, de Haas CGM, van Golde LMG, Lopes-Cardozo M. Relationships between phosphatidylcholine, phosphatidyleth-anolamine and sphingomyelin metabolism in cultured oligo-dendrocytes. J Neurochem 1997;68:1252-1260.
23. Horstmann M, Neumaier-Probst E, Lukacs Z, Steinfeld R, Ullrich K, Kohlschutter A. Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion. Neuropediatrics 2003;34:261-264.
24. Baric I, Fumic K, Glenn B, et al. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of me-thionine metabolism. Proc Natl Acad Sci USA 2004;101: 4234-4239.
25. Kreis R, Ernst T, Ross BD. Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy. Magn Reson Med 1993;30:424-437.
26. Yeo RA, Hill D, Campbell R, Vigil J, Brooks WM. Developmental instability and working memory ability in children: a magnetic resonance spectroscopy investigation. Dev Neuropsychol 2000;17:143-159.
27. Filippi CG, Ulug AM, Deck MD, Zimmerman RD, Heier LA. Developmental delay in children: assessment with proton MR spectroscopy. AJNR Am J Neuroradiol 2002;23:882-888.
28. Pouwels PJW, Brockmann K, Kruse B, et al. Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 1999;46:474-485.