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Tyrosinemia type I is an autosomal recessive disorder caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The disease manifests primarily as liver disease, with hepatic cirrhosis and accompanying renal tubule damage as a result of the build up of succinylacetone. Biochemically, the hallmarks of the disease are elevated blood tyrosine and methionine, elevated blood alpha-fetoprotein, and succinylacetone in the urine. The diagnosis is confirmed by the presence of succinylacetone in urine.
The disease is common in the French Canadian population, with a carrier frequency of 1/25 in people from the Saguenay-Lac St John region of Quebec. The overall carrier frequency in Quebec is 1/66.
Seattle Children’s provides healthcare for the special needs of children regardless
of race, sex, creed, ethnicity or disability. Financial assistance for medically
necessary services is based on family income and hospital resources and is provided
to children under age 21 whose primary residence is in Washington, Alaska, Montana
Seattle Children’s Hospital, Research