Fumarylacetoacetate (FAA)

Fumarylacetoacetate is an intermediate in the metabolism of yrosine. HOOCCH=CHCOCH2COCH2COOH; an intermediate in phenylalanine and tyrosine catabolism; elevated in tyrosinaemia IA.

fumarylacetoacetate hydrolase, an enzyme that catalyses the hydrolysis of fumarylacetoacetate to fumarate and acetoacetate; a deficiency indicates tyrosinaemia IA.

Fumarylacetoacetate hydrolase is an enzyme which catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate.FAH activity and reduced amounts of the full-length protein. The normal and the mutated sequences could be distinguished by BsiEI restriction digestion of PCR products.