title: Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
abstract: A patient is described with type I tyrosinemia characterized by urinary excretion of succinylacetone together with increased excretion of tyrosine, p-hydroxyphenyllactic, p-hydroxyphenylpyruvic and p-hydroxyphenylacetic acids. Fumarylacetoacetase was measured in a liver biopsy and found to be very low compared to control liver. Furthermore the mass spectra of succinylacetone and fumarylacetoacetate (methoxime-TMS derivatives) are reported. Control jejunal mucosa, leucocytes and fibroblasts showed no enzyme activity; hence the prenatal diagnosis of this disease by measuring the fumarylacetoacetase activity in cultured amniotic fluid cells is not possible at present.
mesh_terms: D000090:Acetoacetates / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D005650:Fumarates / Q000172:deficiency; D006537:Heptanoates / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*; D007223:Infant; D007651:Keto Acids / Q000652:urine; D008099:Liver / Q000201:enzymology; D008297:Male; D014443:Tyrosine / Q000097:blood*
chemical_list: D000090:Acetoacetates; D005650:Fumarates; D006537:Heptanoates; D007651:Keto Acids; D014443:Tyrosine; C020804:succinylacetone; D006867:Hydrolases; C020156:fumarylacetoacetase