title: [Clinical and biochemical heterogenicity of phenylketonuria in adults].
abstract: The authors carried out a clinical and biochemical investigation of 23 phenylketonuric patients at the age of 17--49 who were not treated specifically. The clinical examination showed that behavioural reactions, attacks of psychomotor excitation, neurological status, presence or absence of strokes and other symptoms of the disease were heterogenous. It has been established that disturbances of acid, protein, adipose and carbohydrate metabolism have different degrees of expressiveness. The clinical manifestation of the disease is conditioned by heterogeneity of monolocus mutations of the PAH gene.
mesh_terms: D000293:Adolescent; D000328:Adult; D002091:Butyrylcholinesterase / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000378:metabolism; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006801:Humans; D007360:Intelligence; D008077:Lipoproteins, LDL / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000378:metabolism; D010661:Phenylketonurias / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D010667:Phenylpyruvic Acids / Q000652:urine; D011599:Psychopathology; D014443:Tyrosine / Q000097:blood
chemical_list: D008077:Lipoproteins, LDL; D010667:Phenylpyruvic Acids; D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D003576:Electron Transport Complex IV; D002091:Butyrylcholinesterase
vernacular_title: Klinicheskaia i biokhimicheskaia geterogennost' fenilketonurii u vzroslykh liudeĭ