Health Functionalities of Betaine in Patients With Homocystinuria

Abstract

Homocystinuria is a medical condition that can have widespread and harmful effects on multiple organ systems within the body. This disease is caused by a deficiency in one of the enzymes involved in the methionine metabolism pathway. One example would be a deficiency in cystathionine-β-synthase (CBS), which is seen in classical homocystinuria. A deficiency in CBS can lead to elevated levels of homocysteine (HCY) and possible depletion of methionine and/or cysteine. There are several different treatment options for patients with this condition, one of which is the administration of the drug betaine. Here we review the use of betaine to decrease these elevated levels of homocysteine back to within normal ranges. Published literature indicates that the use of this choline derivative is most beneficial to patients who are either not compliant with the recommended low methionine and low protein diet or wish to consume a less restricted diet.

Virtual Drug Repositioning as a Tool to Identify Natural Small Molecules That Synergize with Lumacaftor in F508del-CFTR Binding and Rescuing

“…Glycine betaine is a methyl group donor that functions in the normal metabolic cycle of methionine and reduces homocystinuria in patients with inborn errors of methionine metabolism, as in the case of Homocystinuria, where treatment aims at reducing homocysteine accumulation, as in an alternative pathway that aims to eliminate the toxic substrate (i.e., pharmacologic treatment with betaine which re-methylates homocysteine to methionine) [ 36 ]. With regard to safety, betaine appears to be well tolerated.…”

High Betaine and Dynamic Increase of Betaine Levels Are Both Associated With Poor Prognosis of Patients With Pulmonary Hypertension

“…The evidence showed that betaine enabled to protect internal organs, improve vascular risk factors, and enhance performance ( 8 ). The positive effects of betaine supplementation in treating hyper-homocystinurics ( 23 , 24 ) and alcohol-induced hepatic steatosis ( 25 ) have also been elucidated. As a multifunctional agent, betaine possesses various physiological activities that include anti-oxidation, anti-inflammation, and anti-fibrosis ( 26 – 28 ).…”

Choline, Betaine, and Exercise Performance

“…High blood concentrations of homocysteine have been associated with a higher risk of cardiovascular disease (CVD) and strokes. Betaine functions to convert homocysteine to other compounds, which can lead to the prevention of CVD and strokes (1,11). Research on supplementation with betaine has shown that giving 4.0 g/day of betaine can lead to harmful effects on blood lipid concentrations, but doses lower than 4.0 g/day resulted in beneficial effects of lowering homocysteine concentrations (12,13).…”