Homocystinuria or CBS deficiency is a medical condition that affects the metabolism of the methionine. Due to this disease, there is an abnormal accumulation of homocysteine and its metabolites. This disease leads to a multisystemic disorder of the connective tissue, muscles, cardiovascular and central nervous system. Symptoms are:
• Flush across the cheeks
• Tall, thin build
• Long limbs
• High arched feet
• Knock knees
• Intellectual disability
• Eye abnormalities
• Vascular disease
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?
As for treatment, there is no complete cure for the condition. But in cases, which respond to Vitamin B-6 supplements, such people can manage to live with this remedy. Others might have to be suggested other ways to treat the condition, including dietary changes.
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.