Tyrosinemia and Determining if You’re a Carrier
Tyrosine is an amino acid that is a part of most proteins. Most bodies break down this amino acid and it passes through the body with the incident. People with the genetic disorder, Tyrosinemia, however, cannot break down this amino acid. It builds up in the tissues and organs and causes serious health problems. Left untreated, this buildup can lead to death.
There are three types of Tyrosinemia. Type I is the most severe, and it shows up in infants. These infants fail to gain weight. Untreated, children with Type I will rarely live past ten years old. Type II usually affects the eyes, skin, and mental development. About half of those affected with Type II will have some mental impairment. Type III is so rare that only a few people have ever been diagnosed with it. It is characterized by seizures, loss of balance, and intellectual disability.
Tyrosinemia Type I affects 1 in 100,000 people, but it is much more common in those of Norwegian and French Canadian ancestry. 1 in 100 to 150 people are carriers of Tyrosinemia. Carriers of a genetic disease do not have any symptoms of a disease, and they do not pass on the disorder to their children. However, if both the mother and father are carriers of the disorder, then the child stands a one in four chance of contracting the disease.
Currently, there is no cure for Tyrosinemia, but with a low protein diet and medications people can live into adulthood and live fairly normal lives. Even so, it is a very good idea to be carrier tested in order to work with a doctor to prepare for the possibility of having a child with a genetic disorder.
Fortunately, genetic carrier DNA tests for tyrosinemia is much cheaper now than it has ever been in the past. Full panels that test for dozens of diseases at one time are available for around 200 dollars. A lot of these tests can be done at home using saliva or cheek swabs. They are painless, easy to use, can be done through the mail, and the full report shows up online. Some insurance companies will even pay for these panels.
Since a lot of doctors do not offer carrier DNA tests for tyrosinemia screening until women are already pregnant, it’s a good idea to get the carrier tests on your own before deciding to have a child. One study found that 24 percent of people who are carrier tested find out that they are carriers for at least one disease. A full carrier panel is a great idea for anyone thinking of having a child because it may change the way that future parents proceed.