Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. There are three types of Tyrosinemia namely Type I Tyrosinemia, Type II Tyrosinemia and Type III Tyrosinemia. Some of the common signs and symptoms of Tyrosinemia include kidney and liver disturbances, and intellectual disability.
HOW IS TYROSINEMIA DIAGNOSED?
The General Physician will call for blood and urine tests to be done to diagnose the condition. Any abnormal condition of the liver will also show up in these tests and the doctor will get a fair idea of this condition based on the measurements of abnormal products from the test reports. Since the baby carries the defect from birth, even prenatal tests can be done to detect Tyrosinemia.
HOW IS TYROSINEMIA TREATED?
Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.
DID YOU KNOW?
That Tyrosinemia, if left untreated, could prove fatal?