How Do Homocystinuria Treatment Agents Work?

Homocystinuria treatment agents are a class of drugs used to treat homocystinuria, an inherited, rare condition in which the body is unable to process and metabolize a particular amino acid (building blocks of proteins) called “homocysteine,” leading to its accumulation in the body.

The signs and symptoms of high homocysteine levels typically develop within the first year of life and are associated with heart diseases, weak bones (osteoporosis), skeletal problems, and eye lens problems. The disease is characterized by signs and symptoms such as:

• Myopia (nearsightedness)
• Dislocation of the eye lenses
• Abnormal blood clotting
• Brittle bones that are prone to fractures (osteoporosis)
• Developmental problems
• Learning disabilities
• Chest deformities such as a protrusion or a caved-in appearance of the breastbone
• Long, spindly arms and legs
• Failure to thrive (failure to grow and gain weight at the expected rate)
• Intellectual disabilities
• Seizures (sudden, uncontrolled electrical disturbance in the brain)
• Megaloblastic anemia (red blood cells are larger than normal)

Homocystinuria treatment agents are available as an anhydrous powder for the oral solution to be mixed with food or drink, typically taken twice a day.

Homocystinuria treatment agents work in the following ways:

• They work by helping in the metabolism of a chemical called homocysteine involved in the normal function of many different parts of the body, including the blood, bones, eyes, heart, muscles, nerves, and brain.
• They belong to a class of medications called “nutrients” that work by preventing the accumulation of homocysteine in the body.

Homocystinuria treatment agents are indicated for the treatment of homocystinuria to decrease the elevated homocysteine blood concentrations in pediatric and adult patients.

Some of the common side effects include:

• Nausea
• Vomiting
• Headache
• Diarrhea
• Gastrointestinal distress
• Dysgeusia (an altered sense of taste)
• Body odor

Other rare side effects include:

• Alopecia (unpredictable, patchy hair loss)
• Anorexia (lack or loss of appetite)
• Dental disorders
• Hives (itchy, raised welts on the skin)
• Glossitis (inflammation of the tongue)

Information contained herein is not intended to cover all possible side effects, precautions, warnings, drug interactions, allergic reactions, or adverse effects. Check with your doctor or pharmacist to make sure these drugs do not cause any harm when you take them along with other medicines. Never stop taking your medication and never change your dose or frequency without consulting your doctor.

Generic and brand names of homocystinuria treatment agents include:

• Betaine
• Cystadane