Homocystinuria due to CBS deficiency

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Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein. This form of homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathionine beta-synthase (CBS).

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Original Article Source Credits: NIH, https://rarediseases.info.nih.gov

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Link to Original Article: https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency