title: Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
abstract: This report confirms the accumulation of neopterin and the low biopterin concentration in the liver of a "biopterin-synthetase" deficient patient. Enzymatic studies suggest that the defect lies between the "X"-compound (6-pyruvoyl-tetrahydropterin?) and tetrahydrobiopterin and that pterin found in the patient's liver arises from the "X"-compound.
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000096:biosynthesis / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology*; D019798:Neopterin; D010649:Phenylalanine / Q000097:blood*; D011622:Pterins / Q000378:metabolism
chemical_list: D011622:Pterins; D001708:Biopterins; D010649:Phenylalanine; D019798:Neopterin; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase; C003402:sapropterin