[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)]

Despite considerable diagnostic progress from mass screening tests in all newborns or from sophisticated analytical efforts some patients with inborn errors of amino acid metabolism are detected only after some more or less specific clinical signs have appeared. Those may include a peculiar odor of the sweat or urine, disturbances or normal growth, and skeletal, eye, hair and skin alterations. While some of these features appear early in the course of disease and may be of diagnostic and therapeutic significance (e.g. defects in the oxidation of the branched-chain amino acids) others are noticed only in a later stage with further progress of the disease (e.g. cystathionine synthetase deficient homocystinuria tryosinemia type II, or ornithine aminotransferase deficient hyperornithinemia), when the disease may have more advanced. Therefore the physician who is engaged in the care of the newborn or takes part in any investigation program for the developing child should be aware of these signs in order to initiate further diagnostic, therapeutic, or preventive measure for the patient and his family.