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 these disorders.
These diseases are caused by a problem with the genes that determine how specific enzymes are made. The genes are passed on to a child from one or both parents.
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This problem is more common in people with:
Problems in infants happen shortly after birth and can be severe. They may be:
Problems can also be mild and found after 1 year of age. A child may have:
Most disorders are found during prenatal testing and newborn screening. In others, the doctor will ask about your child's symptoms and health history. A physical exam will be done.
Blood tests will be done to look for causes. Skin, blood, and urine tests will be done to confirm the diagnosis and look for the enzyme that is causing the problem.
Other tests may also be done, such as:
Some infants and children will need care right away, such as IV fluids and medicines. Ongoing treatment will depend on the type of disorder. Some choices are:
Infants and children who are not helped by these methods may need surgery.
There are no known guidelines to prevent these disorders.
Children Living with Inherited Metabolic Disorders
Society for Inherited Metabolic Disorders
The Canadian Mucopolysaccharide & Related Diseases Society
Acute porphyria. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/acute-porphyria. Accessed March 2, 2021.
Ezgu F. Inborn Errors of Metabolism. Adv Clin Chem. 2016;73:195-250.
Inherited metabolic disorder. National Information Center for Metabolic Diseases (CLIMB) website. Available at: http://www.climb.org.uk/what-is-an-inherited-metabolic-disorder. Accessed March 2, 2021.
Karim Z, Lyoumi S, et al. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-425.
Rice GM, Steiner RD. Inborn Errors of Metabolism (Metabolic Disorders). Pediatr Rev. 2016 Jan;37(1):3-17
Last reviewed December 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 3/2/2021