Inherited metabolic diseases are a group of disorders that cause missing or defective enzymes. The enzyme problems can lead to: A build up of harmful substances that the enzymes would otherwise breakdownAn inability to fully breakdown food for use in the cells
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.
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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: Skin rashRecurrent infections or herniasDevelopmental delaysProblems with hearing or sightProblems including pain with bonesProblems with heartSeizures
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: Screening tests for vision and hearingEye examsNeuropsychological testing—measures mental functionMRI scanLumbar puncture
—fluid is taken from the spine and examined
—a sample of tissues is taken and examined
Electromyogram (EMG)—measures electrical impulses in the musclesOther special tests of the heart, liver, and kidneys
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.
To manage symptoms and other conditions, your child may need: DialysisPhysical therapySurgeryMedications
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—
are transplanted through IV to encourage the body to make the missing enzyme.
For some conditions, regular annual screening tests will be needed, such as: Vision and hearing testsElectrocardiogram
to assess heart function
There are no current guidelines to prevent these disorders.
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 12, 2014.
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 April 16, 2014. Accessed August 12, 2014.
Last reviewed August 2014 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.
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