Homocystinuria is also referred to as classical homocystinuria, CBS or cystathionine beta synthase deficiency, which is a metabolic deficiency that causes problems of the CNS or central nervous system. Common signs of the same include very long limbs, very thin built, highly arched feet, seizures, mental disabilities and intellectual problems that exist life long.
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?
Treatment for this issue includes having a low protein diet that is accompanied with high doses of Betaine and vitamin B6. However, different patients may respond to the disease in different ways. It is possible that some people might not benefit from the same at all.
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.