Homocystinuria (HCY)

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.

Multiple forms of this disorder exist but most common symptoms include nearsightedness, dislocation of the lens at the front of the eye, increased risk of abnormal blood clotting, and brittle bones. Although most often mutations in the CBS gene cause this disorder, it may also arise from mutations in the CBS, MTR, MTRR and MMADHC genes.