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?
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’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.