Homocystinuria is an inherited disorder where the body fails to process building blocks of protein properly. The signs and symptoms of homocystinuria include dislocation of the lenses in the eye, abnormal blood clots, learning difficulties and scoliosis. The disorder affects children during the first few years of life. Cystathionine B-synthase is the gene responsible for Homocystinuria. A genetic testing is carried out to identify one of the genes involves in the disorder.
HOW IS HOMOCYSTINURIA DIAGNOSED?
The disorder is common in countries like Ireland, Germany, Norway and Qatar