Back to Browse Journals » Orphan Drugs: Research and Reviews » Volume 2

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

Authors Maclean KN

Published Date September 2012 Volume 2012:2 Pages 23—33

DOI http://dx.doi.org/10.2147/ODRR.S27597

Received 6 July 2012, Accepted 14 August 2012, Published 28 September 2012

Kenneth N Maclean

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA

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 life-threatening 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.

Keywords: homocystinuria, homocysteine, betaine, cystathionine beta-synthase, betaine–homocysteine S-methyltransferase

Download Article [PDF] 

Creative Commons License This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution - Non Commercial (unported, v3.0) License. The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. Permissions beyond the scope of the License are administered by Dove Medical Press Limited. Information on how to request permission may be found at: http://www.dovepress.com/permissions.php

Readers of this article also read:

Uptake of bright fluorophore core-silica shell nanoparticles by biological systems

Zane A, McCracken C, Knight DA, Young T, Lutton AD, Olesik JW, Waldman WJ, Dutta PK

International Journal of Nanomedicine 2015, 10:1547-1567

Published Date: 20 February 2015

Layer-by-layer paper-stacking nanofibrous membranes to deliver adipose-derived stem cells for bone regeneration

Wan W, Zhang S, Ge L, Li Q, Fang X, Yuan Q, Zhong W, Ouyang J, Xing M

International Journal of Nanomedicine 2015, 10:1273-1290

Published Date: 12 February 2015

Nanocomplexation of thrombin with cationic amylose derivative for improved stability and hemostatic efficacy

Zhuang B, Li Z, Pang J, Li W, Huang P, Wang J, Zhou Y, Lin Q, Zhou Q, Ye X, Ye H, Liu Y, Zhang LM, Chen R

International Journal of Nanomedicine 2015, 10:939-947

Published Date: 29 January 2015

Real-world effectiveness of amlodipine/valsartan and amlodipine/valsartan/hydrochlorothiazide in high-risk patients and other subgroups

Assaad-Khalil SH, Najem R, Sison J, Kitchlew AR, Cho BL, Ueng KC, DiTommaso S, Shete A

Vascular Health and Risk Management 2015, 11:71-78

Published Date: 21 January 2015

Fluorescent magnetic iron oxide nanoparticles for cardiac precursor cell selection from stromal vascular fraction and optimization for magnetic resonance imaging

Verma VK, Kamaraju SR, Kancherla R, Kona LK, Beevi SS, Debnath T, Usha SP, Vadapalli R, Arbab AS, Chelluri LK

International Journal of Nanomedicine 2015, 10:711-726

Published Date: 20 January 2015

Intracameral phenylephrine and ketorolac injection (OMS302) for maintenance of intraoperative pupil diameter and reduction of postoperative pain in intraocular lens replacement with phacoemulsification

Lindstrom RL, Loden JC, Walters TR, Dunn SH, Whitaker JS, Kim T, Demopulos GA, Tjia K

Clinical Ophthalmology 2014, 8:1735-1744

Published Date: 5 September 2014

Pharmacokinetics and pharmacodynamics of acetylsalicylic acid after intravenous and oral administration to healthy volunteers

Nagelschmitz J, Blunck M, Kraetzschmar J, Ludwig M, Wensing G, Hohlfeld T

Clinical Pharmacology: Advances and Applications 2014, 6:51-59

Published Date: 19 March 2014

Population pharmacokinetics of olprinone in healthy male volunteers

Kunisawa T, Kasai H, Suda M, Yoshimura M, Sugawara A, Izumi Y, Iida T, Kurosawa A, Iwasaki H

Clinical Pharmacology: Advances and Applications 2014, 6:43-50

Published Date: 4 March 2014