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.
Inherited metabolic disease is more common in families with Ashkenazi Jewish, Finnish, or Dutch heritage. A family history increases the chance of these diseases as well.
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:
These symptoms may be caused by other conditions. If your child has any of these, talk to the doctor.
The doctor will ask 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 your child has.
Talk with the doctor about the best treatment plan for your child. Options may include:
Dietary changes that may be required include avoiding certain foods, avoiding long periods of not eating, or taking vitamins.
To manage symptoms and other conditions, your child may need:
Children Living with Inherited Metabolic Disorders
Society for Inherited Metabolic Disorders
The Canadian Society for Mucopolysaccharide & Related Diseases
Information for Professionals. National Information Center for Metabolic Diseases (CLIMB) website. Available at: http://www.climb.org.uk/imd.html?s=information+for+professionals. Accessed August 11, 2015.
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.
Lipid Storage Disease. National Institute of Neurological Disorders an Stroke website. Available at: http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm. Updated January 13, 2015. Accessed August 11, 2015.
Approach to the child with possible inborn error of metabolism. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Accessed August 11, 2015.
Last reviewed August 2015 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.