الفهرس 
Classification of inborn errors ofOnly 14 pages are availabe for public view
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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)