Tyrosinemia is a rare disorder in the metabolism and mostly detected on birth. There are 3 types of this disorder, I, II and III. The body’s metabolism must be able to breakdown the amino acid called tyrosine and inability to do this brings about Tyrosinemia. The symptoms include the baby not gaining weight, fever, vomiting and so on. The condition is also described as autosomal recessive disorder.
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?
The treatment of Tyrosinemia varies depending upon the type of Tyrosinemia and the doctor usually recommends a low protein diet to treat Tyrosinemia. Besides medication, full or partial liver transplant is an effective treatment for Tyrosinemia.
DID YOU KNOW?
In 1992, Dr. Robert Tanguay, a researcher at Laval University, discovered the gene responsible for the production of FAH.