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Correspondence: Kenneth N Maclean Department of Pediatrics, University of Colorado School of Medicine, Mail Stop 8313, Aurora, CO, 80045-0511, USA Tel +1 303 724 3818 Fax +1 303 315 3838 Email ken.maclean@ucdenver.edu Abstract: Inactivating mutations in cystathionine β-synthase result in classical homocystinuria (HCU) and are typically accompanied by severe elevations of plasma and tissue homocysteine, methionine, S-adenosylmethionine, S-adenosylhomocysteine and significantly decreased cysteine. HCU is usually accompanied by marfanoid skeletal abnormalities, osteoporosis, ectopia lentis and/ or severe myopia, cognitive impairment, and a dramatically increased incidence of atherosclerosis and thromboembolic complications of variable presentation. If untreated, HCU is a serious lifethreatening disease. Betaine (N,N,N-trimethylglycine) is a zwitterionic quaternary ammonium compound that can lower homocysteine, S-adenosylmethionine, S-adenosylhomocysteine, and increase cysteine in HCU by serving as a methyl donor for the remethylation of homocysteine in a reaction catalyzed by betaine–homocysteine S-methyltransferase. This review considers the clinical efficacy and safety of betaine treatment of HCU. Possible strategies by which the efficacy of this treatment might be improved are discussed.

Betaine treatment of cystathionine &beta;-synthase-deficient homocystinuria; does it work and can it be improved?

Betaine treatment of cystathionine β-synthase-deficient homocystinuria; does it work and can it be improved?