Diagnosis

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.

Treatment

Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. Sometimes care begins with a stay in the hospital. For some types of inherited metabolic disorders, there are no treatments currently available.

Inherited metabolic disorders are rare and complex. Depending on the type and severity of the disorder and your or your child's age, you may see several experts in inherited metabolic disorders. These may include specialists in:

  • Medical genetics.
  • Nutrition.
  • Pediatrics and developmental pediatrics.
  • Nervous system.
  • Endocrine and metabolic disorders.
  • Heart and blood vessels.
  • Ear, nose and throat (ENT).
  • Eyes and vision.
  • Digestive system.
  • Kidneys.

Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

By Mayo Clinic Staff