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Inherited Metabolic Diseases—Overview
by Deanna M. Neff, MPH
Inherited metabolic diseases are a group of disorders that result in missing or defective enzymes. The enzyme problems can lead to:
There are thousands of inherited metabolic diseases.
These diseases are caused by a problem with the genes that determine how specific enzymes are made. The genes are passed on from parent(s) to child.
Risk Factors TOP
Inherited metabolic disease is more common in families with
Most inborn errors of metabolism are found as a result of newborn screening tests. If no screening tests are available or the disease is not detected on screening test, symptoms develop.
Symptoms can be severe and appear shortly after birth. Tell your doctor if your infant has any of these:
Symptoms can also be mild and detected later in life. Children 1 year old and over can have additional neurologic symptoms. Tell your doctor if your child has any of these:
You will be asked about your child's symptoms and medical history. A physical exam will be done.
Blood tests will be done to help identify which of the many possible causes it might be. This will help narrow the possibilities to a few specific conditions. Further testing of skin and blood will be done to confirm the diagnosis and/or look for the specific enzyme that is causing the problem.
Other tests may be done to look for any problems that may have developed. Tests may include:
Prenatal testing and newborn screening may help with early detection.
Some infants and children will need immediate support with intravenous fluids and medications. Ongoing treatment will depend on the type of condition a child has.
Treatment options may include:
Dietary changes that may be required include avoiding certain foods, avoiding long periods of not eating, or taking vitamins.
Ongoing Symptom Management
The following may be needed to manage symptoms and other conditions:
Enzyme Therapy TOP
There are no current guidelines to prevent these disorders.
Children Living with Inherited Metabolic Disorders
Society for Inherited Metabolic Disorders
The Canadian Society for Mucopolysaccharide & Related Diseases
Ezgu F. Inborn Errors of Metabolism. Adv Clin Chem. 2016;73:195-250.
Inherited Metabolic Disorders. National Information Center for Metabolic Diseases (CLIMB) website. Available at:
...(Click grey area to select URL)
Accessed August 23, 2017.
Mak CM, Lee HC, Chan AY, Lam CW. Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62.
Rice GM, Steiner RD. Inborn Errors of Metabolism (Metabolic Disorders). Pediatr Rev. 2016 Jan;37(1):3-17
Last reviewed September 2017 by EBSCO Medical Review Board Michael Woods, MD, FAAP
Last Updated: 8/23/2017
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