Laboratory diagnosis of inborn errors of metabolism in children.
A compendium of tests available to diagnose children with inborn errors of metabolism is presented. It is intended to provide the pediatric pathologist with a rational way of using laboratory tests to investigate a patient who is suspected of having an inborn error of metabolism. It is intended to bridge the gap between the ward and the laboratory by providing a framework for investigations of such children.
D001851:Bone Diseases, Metabolic / Q000175:diagnosis; D001928:Brain Diseases, Metabolic / Q000175:diagnosis; D002648:Child; D005128:Eye Diseases / Q000175:diagnosis; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis; D008107:Liver Diseases / Q000175:diagnosis; D008171:Lung Diseases / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009135:Muscular Diseases / Q000175:diagnosis; D012871:Skin Diseases / Q000175:diagnosis