Homocystinuria

... Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria 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.

Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia. ...

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an ...