Inherited Metabolic Disorders

Some inherited metabolic disorders may be diagnosed before birth. Others can be diagnosed by routine newborn screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder.

To find out if you or your child has an inherited metabolic disorder, you may have:

• Physical exam. You may have a physical exam and talk about your or your child’s symptoms and medical history. You also may be asked about any family history.
• Tests. Blood and urine tests check to see how the metabolism is working. Sometimes other types of tests may be recommended.
• Genetic testing. Genetic testing can identify the type of inherited metabolic disorder you or your child has. If one person in the family has an inherited metabolic disorder, specialists often recommend genetic testing and counseling for other family members as well.In some cases, future parents may choose to have carrier testing before pregnancy, also called preconception screening. This test can identify some gene changes in parents that may increase the risk that future children will have certain types of inherited metabolic disorders.
• Genetic counseling. Genetic counseling can include discussion of newborn screening or other genetic testing. Counseling also can include information on the risk of an inherited metabolic disorder for future children.
• Specialist exams. Certain inherited metabolic disorders may increase the risk of other conditions, such as heart, vision or hearing problems. You may be referred to other specialists as needed.