This topic refers to rare genetic metabolic defects. When a defect occurs, it is because enzymes (proteins important for cells in your body to function correctly):
In some cases, extra chemicals or waste build up in the body. This causes symptoms. In other cases, there is a lack of vital substance or protein.
There are thousands of inherited metabolic diseases, such as:
Risk factors include:
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:
Before your baby is born, prenatal tests can check for metabolic diseases.
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:
Your child may need to have changes made to his diet, like avoiding certain foods. Also, avoiding long periods of not eating may help. Taking vitamins may also be beneficial.
To manage symptoms and other conditions, your child may need:
This is a special medicine to help the body make less cell waste.
A missing enzyme is given through a needle placed in the vein (IV).
Healthy bone marrow is transplanted into your child. This may help his body function and slow how fast the disease progresses.
There is no way to prevent these kinds of disorders. Prenatal testing and newborn screening may help with early detection.
Children Living with Inherited Metabolic Disorders
Society for Inherited Metabolic Disorders
The Canadian Society for Mucopolysaccharide & Related Diseases
Badash M. Glycogen storage diseases. EBSCO Patient Education Reference Center website. Available at: http://www.ebscohost.com/thisTopic.php?marketID=16&topicID=1034 . Updated May 28, 2010. Accessed August 6, 2010.
Lysosomal Disease Network website. Available at: http://www.lysosomaldiseasenetwork.org/ . Accessed August 6, 2010.
Mayo Clinic. Metabolic Disorders. Mayo Clinic website. Available at: http://www.mayoclinic.org/metabolic-disorders/ . Accessed August 9, 2010.
National Information Center for Metabolic Diseases (CLIMB) website. Available at: http://www.climb.org.uk/ . Accessed August 9, 2010.
Last reviewed June 2012 by Kari Kassir, MD
Last Updated: 06/07/2012