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.