Fumarylacetoacetate hydrolase liver

Tyrosinosis is presumably due to fumarylacetoacetate hydrolase deficiency and has a high prevalence in the French-Canadian population of Quebec. It is associated with abnormal liver function, renal tubular dysfunction, anemia, and vitamin D-resistant rickets. Transient tyrosinemia of the newborn, particularly in premature infants, is the most common form of tyrosinemia in infancy. 

Tyrosine Fumarylacetoacetate hydrolase Fumarylacetoacetate Tyrosinemia 1 Liver failure, death early... 

Tyrosinemia type I Fumarylacetoacetate hydrolase Increased blood phenylalanine and tyrosine increased alpha-fetoprotein urinary succinylacetone Liver failure rentil tubular acidosis, failure to thrive, vomiting, diarrhea, rickets, porphyria-like crises, hepatic carcinoma Phenylalanine and tyrosine restriction (diet used in conjunction with NTBC or until liver transplantation is possible) None... 

The next enzymic step in the dissimilation of tyrosine, oxidation of homogentisic acid, was clearly established by the work of Ravdin and Crandall 2H0). These investigators isolated two enzyme fractions from a rat liver homogenate, one of which catalyzed the oxidation of homogentisic acid to an open chain diketone-dicarboxylic acid. In their hands the product isolated was 4-fumarylacetoacetic acid. Subsequent work has shown that the initial product is 4-maleylacetoacetic acid and that an isomerase is present which converts this to the fumarylacetoacetate 221). The second enzyme of Ravdin and Crandall 220), fumarylacetoacetic acid hydrolase, hydrolytically cleaves this compound to fumarate and aceto-acetate. 

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