[Diagnosis and management of the aminoacidopathies (author's transl)].
Since its description by Garrod, the concept of the "inborn errors of metabolism" has become a clinical reality that the physician cannot ignore. The aminoacidopathies represent a group historically notable in that they represent the first diseases recognized as metabolic in origin (alcaptonuria, albinism) and for which some measure of therapeutic success can be claimed. Dietary prophylaxis of the encephalopathy of phenylketonuria is a prominent example. Much progress has been made in the understanding of the aminoacidopathies that touch upon aspects as diverse as semiological study and prevention by pre- and neo-natal diagnosis. This brief overview presents the basic clinical, biochemical, genetic, physiopathological and therapeutic principles of these diseases. It provides representative examples of the diagnostic approach and draws particular attention to the need and the role of cross-disciplinary teamwork in the diagnosis and continuing care of the patient. While we wait for new methods of genetic correction, the main goal must be to prevent the clinical consequences of the metabolic defect.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002952:Citric Acid Cycle; D005260:Female; D005838:Genotype; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D008239:Lysine / Q000378:metabolism; D010649:Phenylalanine / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis
D006710:Homocysteine; D010649:Phenylalanine; D008239:Lysine
Actualités sur les aminoacidopathies.