Homocystinuria due to CBS deficiency

Common Name(s)

Homocystinuria due to CBS deficiency

Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. This form of homocystinuria is caused by the lack of an enzyme called cystathionine beta-synthase, which results from a mutation in the CBS gene. It is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases. Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern.  Treatment aims to correct the biochemical abnormalities, especially to control blood homocystine concentration and prevent thrombosis (blood clots). Vitamin B6 (pyridoxine) therapy, protein-restricted and methionine-restricted diets, betaine treatment, and/or folate and vitamin B12 supplementation may be used to manage the condition.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Homocystinuria due to CBS deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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The terms "Homocystinuria due to CBS deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.