Munson Health
Inherited Metabolic Diseases -- Overview

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by Neff DM


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.

Enzyme Therapy

  • Substrate Synthesis Inhibition Therapy (SSI)—medication that decreases the item that build up in the cells due to missing enzymes.
  • Enzyme Replacement Therapy (ERT)—Working enzymes are delivered through an IV to do the job of the defective enzymes.
  • Stem Cell Transplant— stem cells are transplanted through IV to encourage the body to make the missing enzyme.

Ongoing Monitoring

For some conditions, regular annual screening tests will be needed, such as:


Children Living with Inherited Metabolic Disorders

Society for Inherited Metabolic Disorders



The Canadian Society for Mucopolysaccharide & Related Diseases

Health Canada



Information for Professionals. National Information Center for Metabolic Diseases (CLIMB) website. Available at: . Accessed June 24, 2013.

Lipid Storage Disease. National Institute of Neurological Disorders an Stroke website. Available at: . Accessed June 24, 2013.


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