Inherited Metabolic Diseases—Overview
Inherited metabolic diseases are a group of disorders that cause 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.
Symptoms can be severe and appear shortly after birth. Symptoms can also be mild and detected later in life. 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. Skin and blood testing may be done to 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.
Talk with the doctor about the best treatment plan for your child. Treatment will depend on the type of condition your child has. 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
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/pro.htm . Accessed June 24, 2013.
Lipid Storage Disease. National Institute of Neurological Disorders an Stroke website. Available at: http://www.ninds.n... . Accessed June 24, 2013.
Last reviewed June 2013 by Michael Woods, MD