Betaine

Betaine is a methyl group donor that functions in the normal metabolic cycle of methionine. It is a naturally occurring choline derivative commonly ingested through diet, with a role in regulating cellular hydration and maintaining cell function. Homocystinuria is an inherited disorder that leads to the accumulation of homocysteine in plasma and urine. Currently, no treatments are available to correct the genetic causes of homocystinuria. However, in order to normalize homocysteine levels, patients can be treated with vitamin B6 (pyridoxine), vitamin B12 (cobalamin), folate and specific diets. Betaine reduces plasma homocysteine levels in patients with homocystinuria. Although it is present in many food products, the levels found there are insufficient to treat this condition. The FDA and EMA have approved the product Cystadane (betaine anhydrous, oral solution) for the treatment of homocystinuria, and the EMA has approved the use of Amversio (betaine anhydrous, oral powder).

Betaine is indicated for the treatment of homocystinuria in pediatric and adult patients to decrease elevated homocysteine blood levels. Included within the category of homocystinuria are deficiencies or defects in cystathionine beta-synthase (CBS), 5,10-methylenetetrahydrofolate reductase (MTHFR), and cobalamin cofactor metabolism (cbl).

• Homocystinuria
• Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
• Homocystinuria due to MTHFR deficiency
• Homocystinuria due to cobalamin cofactor metabolism (cbl) defect