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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.
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