Enzymatic Disorders - Inborn Errors of Metabolism

How is the disease diagnosed?

Physical features such as malformations of the skeleton or abnormal hair usually suggest the presence of an inborn error of metabolism. Whether or not the physical features are obvious, diagnosis is confirmed by checking the blood or urine for one or more of the compounds involved. Tests for urine amino acids can be helpful. There may be too much of a compound, not enough of another, or abnormalities among others. The compounds may also be studied in tissue from biopsies. DNA tests may also confirm the diagnosis.