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 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?
That Tyrosinemia, if left untreated, could prove fatal?