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. If untreated, tyrosine and its by products build up in tissues and organs, which can lead to serious health problems. The acute form of tyrosinemia type I is present at birth (congenital) or during the first months of life. This form of the disorder is more common and severe than the chronic form. Infants with the acute form exhibit rapid onset of symptoms usually beginning with failure to gain weight and grow at the expected rate (failure to thrive). Additional early symptoms include fever, diarrhea, bloody stools (melena), and vomiting.
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.
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?