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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?
A General Physician diagnoses Tyrosinemia by examining the medical history of the patient and performing blood test, biopsy, CT scan, endoscopy and genetic testing.
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?
About 10 percent of newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). In these cases, the cause is not genetic. The most likely causes are vitamin C deficiency or immature liver enzymes due to premature birth.