Homocystinuria, also known as Cystathionine Beta Synthase Deficiency, is an inherited disorder that refrain the body from processing the essential amino acid methionine. While Amino Acids are the building blocks of protein, adults need it to maintain their body’s nitrogen balance and kids need it for growth. The symptoms of Homocystinuria include nearsightedness, learning disabilities, osteoporosis, chest deformities, abnormal blood clots and long arms and legs.
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?
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.