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.
Organism species: Pan-species (General)
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