Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Homocystinuria due to CBS deficiency


Other Names for this Disease

  • CBS deficiency
  • Cystathionine beta-synthase deficiency
  • Homocystinuria due to cystathionine beta-synthase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • The NORD Physician Guide  for Homocystinuria due to CBS deficiency was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors.  The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. 
  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Betaine
Trade Name
(Manufacturer Name)
Cystadane
(Jazz Pharmaceuticals)
Indication
The FDA has approved this product to be used in this manner.
Treatment of homocystinuria to decrease elevated homocysteine blood levels.
More Information about this product Drug Information Portal
Medline Plus Health Information

Other Names for this Disease
  • CBS deficiency
  • Cystathionine beta-synthase deficiency
  • Homocystinuria due to cystathionine beta-synthase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.