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?
Diagnosis of the same would be done through a series of laboratory tests using blood and urine for excretion of the thiol amino acid homocysteine.
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.