How is tyrosinemia identified?
With modern medical technology, it is fairly easy to diagnose any form of tyrosinemia. When a baby is born, doctors take a blood sample that they use to test for genetic disorders, and there are tests for all 3 types of tyrosinemia based on deficiencies of the affected enzymes.
When such tests are not available, the appearance of symptoms from a young age means that a trained professional can identify each type of tyrosinemia in an infant. |