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Abstract fumarylacetoacetate hydrolase (FAH), and enzyme that catalyzes the last step in tyrosine degradation (Lindbald et at., 1977) Deficiency of this enzyme presumably results in the accumulation of toxic metabolites in the form of fumarylacetoacetate, maleylacetoacetate, succinylacetoacetate and succinylacetone. The latter is blamed to be responsible tor the clinical picture of the disease (Teckman & Perlmutter, 1995) Succinylacetone IS aminolevulinic acid a competitive inhibitor of dehydratase ”porphobilinogen synthase” enzyme resulting a very low activity op the enzyme to less than 7% of the normal in erythrocyte and liver of patients with HTI (Lindstedt et at., 1992) |