Homocystinuria is a disorder that is seen in newborn babies and it is an inherited condition. In this disorder, the body system fails to process the proteins which are essential for the system. The more commonly observed cases of Homocystinuria are in infants and children in their early years. Children with this condition tend to be underweight and grow slower than normal. The symptoms include nearsightedness, unusual blood clots, dislocation of eye lens and so on. The condition also manifests in different forms.
HOW IS HOMOCYSTINURIA DIAGNOSED?
A Pediatric or General Physician diagnoses Homocystinuria by conducting a series of tests to determine the severity of the disease. A genetic testing, amino acid screen of the blood and urine check or a liver biopsy is conducted to diagnose Homocystinuria.
HOW IS HOMOCYSTINURIA TREATED?
There’s no cure for homocystinuria. High doses of vitamin B-6 are a successful treatment for about half of the people with this disorder. The treatment of homocystinuria due to CBS deficiency is directed toward preventing or reducing the symptoms commonly associated with the disorder by controlling the levels of homocysteine in the fluid portion of the blood (plasma).
DID YOU KNOW?
In most cases, at least 1/3rd of the patients die before the age of 30. Thus, the chances of leading a full life are rather limited.