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 diagnosis of tyrosinemia is based on blood and urine tests. In both the acute and chronic forms of the disease, liver function tests are often abnormal. Low serum albumin and clotting factors are also frequently found. Transaminase levels in the blood may be mildly to moderately elevated, and the bilirubin level is increased to a variable extent. Because of the biochemical defect, abnormal products may be measured in the urine which confirm the diagnosis. Prenatal diagnosis is possible and can be performed by measuring succinylacetone or FSH levels in the amniotic fluid.
HOW IS TYROSINEMIA TREATED?
It is customary to place affected infants on diets low in phenylalanine, methionine and tyrosine. Given tyrosine is found in meats, dairy products, and other protein rich foods such as nuts and beans they should be avoided. Strict attention to nutrition and adequate vitamin and mineral intake do not cure tyrosinemia, but serve to control the metabolic abnormalities and support normal development and growth. In addition to dietary modification, treatment with nitisinone has been shown to be beneficial. At the present time, liver transplantation remains the only effective means of establishing normal enzyme activity and treating the disease once it has reached the more advanced stages.
DID YOU KNOW?
In 1992, Dr. Robert Tanguay, a researcher at Laval University, discovered the gene responsible for the production of FAH.