Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
Phenylketonuria is still a brilliant example that early diagnosis, immediate onset of treatment and carefully controlled diet enable the patient to grow up normally. There are, however, other inherited disorders of amino acid metabolism in which the prognosis of the affected patients--despite some progress in the recent past--is still very poor.
D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology / Q000628:therapy*; D001708:Biopterins / Q000378:metabolism; D004032:Diet; D004044:Dietary Proteins / Q000008:administration & dosage; D004093:Dihydropteridine Reductase / Q000235:genetics; D005060:Europe; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000517:prevention & control; D008099:Liver / Q000201:enzymology; D008403:Mass Screening; D010649:Phenylalanine / Q000097:blood / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics; D010661:Phenylketonurias / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011248:Pregnancy Complications; D011379:Prognosis; D011622:Pterins / Q000627:therapeutic use; D014443:Tyrosine / Q000378:metabolism
D004044:Dietary Proteins; D011622:Pterins; C011552:tetrahydropterin; D001708:Biopterins; D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D004093:Dihydropteridine Reductase