Genetic disorders are medical conditions that are passed down through families.

What happens when a person has Homocystinuria?

Homocystinuria causes levels of the amino acid homocysteine (HO-mo-SIS-teen) to buildup in blood and urine. This buildup occurs when the body cannot properly process homocysteine or methionine (meh-THIGH-uh-neen), another amino acid. Amino acids are the building blocks that the body uses to make proteins. The cause of the buildup of homocysteine varies depending on the genetic disorder.

High levels of homocysteine and abnormal levels of methionine can cause many different symptoms in the body and lead to serious, lifelong health problems.

Watch this video to learn about why homocystinuria can occur in the body.

Where can I get more information and support?

If you or your child is diagnosed with a genetic disorder that causes homocystinuria, you’ll want to find out as much as you can about the disease. The following educational and advocacy groups provide information about rare genetic disorders, including the different types of homocystinuria. You can explore these groups online.

HCU Network America logo

HCU Network America

The mission of HCU Network America is to help people with homocystinuria (HCU) and related disorders manage their disease and to find a cure.

Organic Acidemia Association logo

Organic Acidemia Association

The Organic Acidemia Association is a patient advocacy organization that provides support and information for people with inherited metabolic disorders. Homocystinuria caused by several cobalamin defects—cblC, cblD, cblF, cblJ, and cblX—is included as a part of the group’s advocacy activities.

National Organization for Rare Disorders (NORD) logo

NORD - National Organization for Rare Disorders

NORD is patient advocacy organization dedicated to helping people with rare diseases. NORD provides information on homocystinuria due to CBS deficiency.

INDICATIONS AND USAGE

CYSTADANE (betaine anhydrous for oral solution) is indicated in children and adults for the treatment of homocystinuria to decrease high homocysteine blood levels. Homocystinuria is a rare genetic disorder in which there is an abnormal accumulation of the amino acid homocysteine in the blood and urine. The following are considered to be homocystinuria disorders:

  • Cystathionine beta-synthase (CBS) deficiency
  • 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency
  • Cobalamin cofactor metabolism (cbl) defect

IMPORTANT SAFETY INFORMATION

  • Hypermethioninemia in Patients with CBS Deficiency: CYSTADANE may worsen high methionine blood levels and accumulation of excess fluid in the brain has been reported. If you have been told you have CBS deficiency, your doctor will be monitoring your methionine blood levels to see if changes in your diet and dosage are necessary.
  • Most common side effects were nausea and gastrointestinal distress, based on a survey of doctors.
  • To report SUSPECTED SIDE EFFECTS, contact Recordati Rare Diseases Inc. at 1-888-575-8344, or FDA at 1‑800-FDA-1088 or www.fda.gov/medwatch.
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IMPORTANT SAFETY INFORMATION

  • Hypermethioninemia in Patients with CBS Deficiency: CYSTADANE may worsen high methionine blood levels and accumulation of excess fluid in the brain has been reported. If you have been told you have CBS deficiency, your doctor will be monitoring your methionine blood levels to see if changes in your diet and dosage are necessary.
  • Most common side effects were nausea and gastrointestinal distress, based on a survey of doctors.