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12 - Betaine treatment for the homocystinurias

from SECTION III - UTILIZATION OF ALTERNATIVE PATHWAYS

Published online by Cambridge University Press:  17 November 2010

By
Amy Lawson-Yuen  and
Harvey L. Levy
Edited by
Jess G. Thoene
Jess G. Thoene
Affiliation:
University of Michigan, Ann Arbor
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Type
Chapter
Information
Small Molecule Therapy for Genetic Disease , pp. 173 - 182
Publisher: Cambridge University Press
Print publication year: 2010

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References

Carson, NA, Neill, DW. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child. 1962;37:505–513CrossRefGoogle Scholar
Gerritsen, T, Vaughn, JG, Waisman, HA. The identification of homocysteine in the urine. Biochem Biophys Res Commun. 1962;9:493–496CrossRefGoogle ScholarPubMed
Mudd, SH, Levy, HL, Kraus, JP. Disorders of transsulfuration. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., eds. The Metabolic and Molecular Bases of Inherited Disease, New York, McGraw-Hill, 2007–2056, 2001Google Scholar
Hubmacher, D, Tiedemann, K, Bartels, R, Brinckmann, J, Vollbrandt, T, Bätge, B, Notbohm, H, Reinhardt, DP. Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria. J Biol Chem. 2005;280(41):34946–34955CrossRefGoogle ScholarPubMed
Hutchinson, S, Aplin, RT, Webb, H, Kettle, S, Timmermans, J, Boers, GH, Handford, PA. Molecular effects of homocysteine on cbEGF domain structure: Insights into the pathogenesis of homocystinuria. J Mol Biol. 2005;346(3):833–844CrossRefGoogle ScholarPubMed
Peterschmitt, MJ, Simmons, JR, Levy, HL. Reduction of false-negative results in screening of newborns for homocystinuria. N Engl J Med. 1999;341:1572–1576CrossRefGoogle ScholarPubMed
Wagstaff, J, Korson, M, Kraus, JP, Levy, HL. Severe folate deficiency and pancytopenia in a nutritionally-deprived infant with homocystinuria caused by cystathionine beta-synthase deficiency. J Pediatr. 1991;118:569–572CrossRefGoogle Scholar
Scovby, F, Gaustadnes, M, Mudd, SH. A revisit to the natural history of homocystinuria due to cystathionine B-synthase deficiency. Molec Genet Metab. 2010;99:1–3CrossRefGoogle Scholar
Lerner-Ellis, JP, Tirone, JC, Pawelek, PD, Dore, C, Atkinson, JL, Watkins, D, Morel, CF, Fujiwara, TM, Moras, E, Hosack, AR, Dunbar, GV, Antonicka, H, Forgetta, V, Dobson, CM, Leclerc, D, Gravel, RA, Shoubridge, EA, Coulton, JW, Lepage, P, Rommens, JM, Morgan, K, Rosenblatt, DS. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006;38:93–100CrossRefGoogle ScholarPubMed
Lerner-Ellis, JP, Anastasio, N, Liu, J, Coelho, D, Suormala, T, Stucki, M, Loewy, AD, Gurd, S, Grundberg, E, Morel, CF, Watkins, D, Baumgartner, MR, Pastinen, T, Rosenblatt, DS, Fowler, B. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat. 2009;30:1–10CrossRefGoogle ScholarPubMed
Carrillo-Carrasco, N, Sloan, J, Valle, D, Hamosh, A, Venditti, CP. Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis. 2009;32:728–731CrossRefGoogle ScholarPubMed
Strauss, KA, Morton, DH, Puffenberger, EG, Hendrickson, C, Robinson, DL, Wagner, C, Stabler, SP, Allen, RH, Chwatko, G, Jakubowski, H, Niculescu, MD, Mudd, SH. Prevention of brain disease from severe 10-methylenetetrahydrofolate reductase deficiency. Molec Genet Metab. 2007;91:165–175CrossRefGoogle ScholarPubMed
Smith, SE, Kinney, HC, Swoboda, KJ, Levy, HL. Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006;88:138–145CrossRefGoogle ScholarPubMed
Perry, TL, Hansen, S, Love, DL, Crawford, , Tischler, B. Treatment of homocystinuria with a low-methionine diet, supplementary cystine, and a methyl donor. Lancet. 1968;2:474–478CrossRefGoogle Scholar
Komrower, GM, Sardharwalla, IB. The dietary treatment of homocystinuria. Carson, N.A., Raine, D.N., eds. Inherited Disorders of Sulfur Metabolism. Churchill Livingstone, Edinburgh, 254–263, 1971Google Scholar
Smolin, , Benevenga, NJ, Berlow, S. The use of betaine for the treatment of homocystinuria. J Pediatr. 1981;99:467–472CrossRefGoogle ScholarPubMed
Wilcken, , Wilcken, B, Dudman, NP, Tyrrell, PA. Homocystinuria – the effects of betaine in the treatment of patients not responsive to pyridoxine. N Engl J Med. 1983;309:448–453CrossRefGoogle Scholar
Wilcken, , Wilcken, B. The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis. 1997;20:295–300CrossRefGoogle Scholar
Walter, JH, Wraith, JE, White, FJ, Bridge, C, Till, J. Strategies for the treatment of cystathionine beta-synthase deficiency: The experience of the Willink Biochemical Genetics Unit over the past 30 years. Eur J Pediatr. 1998;157(Suppl 2):S71–S76CrossRefGoogle ScholarPubMed
Yap, S, Boers, GH, Wilcken, B, Wilcken, , Brenton, DP, Lee, PJ, Walter, JH, Howard, PM, Naughten, ER. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: A multicenter observational study. Arterioscler Thromb Vasc Biol. 2001;21:2080–2085CrossRefGoogle ScholarPubMed
Gahl, WA, Bernardini, I, Chen, S, Kurtz, D, Horvath, K. The effect of oral betaine on vertebral body bone density in pyridoxine-nonresponsive homocystinuria. J Inherit Metab Dis. 1988;11:291–298CrossRefGoogle Scholar
Wendel, U, Bremer, U. Betaine in the treatment of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr. 1984;142:147–150CrossRefGoogle ScholarPubMed
Rosenblatt, DS, Aspler, AL, Shevell, MI, Pletcher, BA, Fenton, WA, Seashore, MR. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis. 1997;20:528–538CrossRefGoogle Scholar
Bartholomew, DW, Batshaw, ML, Allen, RH, Roe, CR, Rosenblatt, D, Valle, DL, Francomano, CA. Therapeutic approaches to cobalamin-C methylmalonic academia and homocystinuria. J Pediatr. 1988;112:32–39CrossRefGoogle Scholar
Scott, JM, Dinn, JJ, Wilson, P, Weir, DG. Pathogenesis of subacute combined degeneration: A result of methyl group deficiency. Lancet. 1981;2:334–337CrossRefGoogle ScholarPubMed
Weir, DG, Keating, S, Molloy, A, McPartlin, J, Kennedy, S, Blanchflower, J, Kennedy, DG, Rice, D, Scott, JM. Methylation deficiency causes vitamin B12-associated neuropathy in the pig. J Neurochem. 1988;51(6):1949–1952CrossRefGoogle ScholarPubMed
Schwahn, BC, Hafner, D, Hohlfeld, T, Balkenhol, N, Laryea, MD, Wendel, U. Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. Br J Clin Pharmacol. 2003;55(1):6–13CrossRefGoogle ScholarPubMed
Matthews, A, Johnson, TN, Rostami-Hodjegan, A, Chakrapani, A, Wraith, JE, Moat, SJ, Bonham, JR, Tucker, GT. An indirect response model of homocysteine suppression by betaine: Optimising the dosage regimen of betaine in homocystinuria. Br J Clin Pharmacol. 2002;54(2):140–146CrossRefGoogle ScholarPubMed
Yaghmai, R, Kashani, AH, Geraghty, MT, Okoh, J, Pomper, M, Tangerman, A, Wagner, C, Stabler, SP, Allen, RH, Mudd, SH, Braverman, N. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am J Med Genet. 2002;108(1):57–63CrossRefGoogle Scholar
Devlin, A.M., Hajipour, L, Gholkar, A, Fernandes, H, Ramesh, V, Morris, AA. Cerebral edema associated with betaine treatment in classical homocystinuria. J Pediatr. 2004;144(4):545–548CrossRefGoogle ScholarPubMed
Tada, H, Takanashi, J, Barkovich, AJ, Yamamoto, S, Kohno, Y. Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. Am J Neuroradiol. 2004;144:545–548Google Scholar
Braverman, NE, Mudd, SH, Barker, PB, Pomper, MG. Characteristic MR imaging changes in severe hypermethioninemic states. Am J Neuroradiol. 2005;26:2705–2706Google ScholarPubMed
Levy, HL, Vargas, JE, Waisbren, SE, Kurczynski, TW, Roeder, ER, Schwartz, RS, Rosengren, S, Prasad, C, Greenberg, CR, Gilfix, BM, MacGregor, D, Shih, VE, Bao, L, Kraus, JP. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002;25(4):299–314CrossRefGoogle ScholarPubMed
Vilaseca, MA, Cuartero, ML, Martinez de Salinas, M, Lambruschini, N, Pintó, X, Urreizti, R, Balcells, S, Grinberg, D. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. J Inherit Metab Dis. 2004;27(6):775–777CrossRefGoogle ScholarPubMed
Pierre, G, Gissen, P, Chakrapani, A, McDonald, A, Preece, M, Wright, J. Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy. J Inherit Metab Dis. 2006;29(5):688–689CrossRefGoogle ScholarPubMed

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