title: Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
abstract: Fumarylacetoacetate fumarylhydrolase (E.C.3.7.1.2.), a liver enzyme involved in tyrosine degradation, is shown to be present in many human tissues and cells including lymphocytes, fibroblasts, and cultured amniotic fluid cells. The enzyme activity in lymphocytes from six patients with hereditary tyrosinemia (hepatorenal type) and fibroblasts from three patients, was found to be less than 10% of the activity in control subjects. In lymphocytes and fibroblasts from the parents (n = 16) of the patients the enzyme values were compatible with a heterozygote genotype. The lymphocyte enzyme pattern of the control subjects (n = 97), is complicated, and indicates possible enzyme variants.
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D002648:Child; D002675:Child, Preschool; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*; D007223:Infant; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology*; D014443:Tyrosine / Q000378:metabolism*
chemical_list: D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase