[Diagnosis of congenital amino acidopathies by phenotype markers (urine or body odors, skin, hair, eye symptoms or skeletal changes)].

Abstract excerpt

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.

Topics

• Amino Acid Metabolism, Inborn Errors
• Bone Diseases, Developmental
• Eye Diseases
• Genetic Markers
• Hair Diseases
• Humans
• Infant
• Infant, Newborn
• Odorants
• Phenotype
• Skin Diseases