Homocystinuria due to cystathionine beta-synthase mutations

cystathionine beta-synthase

Mutations in cystathionine beta-sythase (CBS) can result in homocystinuria, which is very high levels of homocysteine. Severe illnesses can occur where there are mutations in CBS.

Lowering homocysteine levels is now the main focus of treatment where there are mutations in CBS with very high homocysteine levels. However, many of the difficulties associated with mutations in CBS could be due to dysregulations in pathways downstream from the transsulfuration pathway.

The treatment presented on the Treatmemt Page could be tested on rats with CBS mutations that result in very high levels of homocsyteine. Along with treatments to lower homocysteine levels treatments to address dysregulations in pathways downstream of the transsulfuration pathway could be of terrific assistance to individuals with mutations in CBS with very high homocysteine levels.

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