[Diagnosis of congenital amino acidopathies by phenotype markers (urine or body odors, skin, hair, eye symptoms or skeletal changes)].
Inborn errors of amino acid metabolism are a substantial field of medicine. It is the purpose of this review to describe peculiar odors of the sweat or urine, and eye, hair, skin and skeletal alterations. These findings are often diagnostic and can be helpful in detecting patients who may benefit from early therapeutic or dietary measures.
Cantani
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A
Kinderklinik der Universität La Sapienza, Roma.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005819:Genetic Markers; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009812:Odorants; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics
D005819:Genetic Markers
Diagnostik angeborener Aminoazidopathien durch phänotypische Merkmale (Urin- oder Körpergerüche, Haut-, Haare-, Augensymptome oder Skelettveränderungen).