Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
The activity of human liver fumarylacetoacetate fumarylhydrolase (EC 3.7.1.2) has been determined with fumarylacetoacetate as substrate. The Km was found to be 1.3 mu mol/l. Subcellular fractionation showed localization of the enzyme in the particle-free supernatant (cytosol). ZnCl2, CuCl2 and p-chloromercuribenzoic acid had a marked inhibitory effect on the enzyme activity, but no inhibition was observed with a number of anions and substrate analogs. Fumarylacetoacetate fumarylhydorlase activity in liver tissue from a patient with hereditary tyrosinemia was found to be less 2% of the controls. The assay is applicable to 3 mg of liver tissue which may be obtained by needle biopsy.
D000090:Acetoacetates / Q000032:analysis / Q000172:deficiency; D000328:Adult; D000368:Aged; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D002458:Cell Fractionation; D003600:Cytosol / Q000201:enzymology; D004355:Drug Stability; D005650:Fumarates / Q000032:analysis / Q000172:deficiency; D006801:Humans; D006867:Hydrolases / Q000032:analysis* / Q000172:deficiency; D007223:Infant; D007700:Kinetics; D008099:Liver / Q000201:enzymology*; D008875:Middle Aged; D014443:Tyrosine / Q000097:blood*
D000090:Acetoacetates; D005650:Fumarates; D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase