Homocystinuria is an inherited disorder that keeps the body from processing the essential amino acid methionine. Amino acids are the building blocks of protein. Methionine occurs naturally in various proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.
HOW IS HOMOCYSTINURIA DIAGNOSED?
The Paediatrician will be able to diagnose the condition through a physical examination and some of the obvious symptoms like the limited growth and physical structure of the child and other symptoms described above. Genetic testing and amino acid screen test of the blood and urine will also be done to get the confirmations needed that it is indeed Homocystinuria.
HOW IS HOMOCYSTINURIA TREATED?
There is no specific cure for Homocystinuria. Dietary changes may provide relief from symptoms. Taking supplemental vitamin B6 helps in some cases of Homocystinuria. A low protein diet is recommended for patients.
DID YOU KNOW?
Most serious complications result from blood clots. These episodes can be life-threatening. Dislocated lenses of the eyes can seriously damage vision. Lens replacement surgery may be needed. Intellectual disability is a serious consequence of the disease. But, it can be reduced if diagnosed early.