Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.
Succinylacetone was excreted in the urine from four patients, with hereditary tyrosinemia i.e., two patients with the severe infantile type with fatal outcome and two patients with less severe juvenile form. In the urine from two patients with neonatal transient tyrosinemia and from normal individuals succinylacetone was not detectable. The urinary excretion of delta-aminolevulinic acid was also increased in all patients with hereditary tyrosinemia compared to patients with neonatal transient tyrosinemia and to normal individuals. The results presented support the hypothesis of a deficiency of fumarylacetoacetase in hereditary tyrosinemia. Furthermore an analytical method for the quantitative determination of succinylacetone in urine using GC-MS is described.
D000090:Acetoacetates / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D000622:Aminolevulinic Acid / Q000652:urine*; D005260:Female; D005650:Fumarates / Q000172:deficiency; D006537:Heptanoates / Q000652:urine*; D006538:Heptanoic Acids / Q000652:urine*; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D007223:Infant; D007651:Keto Acids / Q000652:urine; D007982:Levulinic Acids / Q000652:urine*; D008297:Male; D008954:Models, Biological; D014443:Tyrosine / Q000097:blood*
D000090:Acetoacetates; D005650:Fumarates; D006537:Heptanoates; D006538:Heptanoic Acids; D007651:Keto Acids; D007982:Levulinic Acids; D014443:Tyrosine; C020804:succinylacetone; D000622:Aminolevulinic Acid; D006867:Hydrolases; C020156:fumarylacetoacetase