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About Tyrosinemia | ||
Tyrosinemia type 1 (the term “tyrosinemia” is used to refer to tyrosinemia type 1) is a genetic disorder in which affected individuals are unable to appropriately metabolize chemicals in the tyrosine pathway. Tyrosine and succinylacetone build up, and cause serious medical problems including liver and kidney failure and neurological problems. Fortunately, when an individual is diagnosed early in life and tyrosine and succinylacetone levels are kept in good control, complications can be prevented. The treatment for tyrosinemia consists of a medication and special diet:
Regular monitoring of laboratory values is also part of treatment of tyrosinemia; it helps the health care team prescribe appropriate medication doses and formula composition. Regular monitoring includes:
A child with appropriately managed blood tyrosine levels will act and look like other children of the same age. The only difference between children with tyrosinemia and other children is in the foods the child with tyrosinemia can and cannot eat and the medication. Detailed information about tyrosinemia is included on this website:
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