title: [Urinary phenylalanine metabolites in hyperphenylalaninemia (author's transl)].
abstract: Urinary phenylalanine metabolites after phenylalanine load of 4 healthy controls, 15 patients with classical phenylketonuria and 8 patients with hyperphenylalaninemic variants are measured quantitatively by gas chromatography. Statistically significant differences are found for a number of metabolites, e.g. phenylpyruvate, phenyllactate, ortho-hydroxy-phenylacetate, para-hydroxy-phenylpyruvate and para-hydroxy-phenyllactate. The results are discussed with respect to discrimination of phenylketonuria patients and patients with hyperphenylalaninemic variants and in respect to pathophysiological aspects.
mesh_terms: D006801:Humans; D007773:Lactates / Q000652:urine; D008333:Mandelic Acids / Q000652:urine; D010648:Phenylacetates / Q000652:urine; D010649:Phenylalanine / Q000652:urine*; D010661:Phenylketonurias / Q000652:urine*; D010667:Phenylpyruvic Acids / Q000652:urine
chemical_list: D007773:Lactates; D008333:Mandelic Acids; D010648:Phenylacetates; D010667:Phenylpyruvic Acids; D010649:Phenylalanine
vernacular_title: Phenylalaninmetaboliten im Urin von Patienten mit persistierender Hyperphenylalaninaemie