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): Are missing from the body orAre not functioning normally
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: Tay SachsWilson’s diseasePhenylketonuria
Lysosomal storage diseases
These diseases are caused by a genetic defect passed on from parent(s) to child.
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Risk factors include: Family historyCertain ethnic backgrounds (Ashkenazi Jewish, Finnish, Dutch)
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: Distorted facial featuresEnlarged tongueCloudy eyesPurple-blue skin rashSwollen abdomenSkeletal deformitiesShort statureLack of muscle controlSeizuresDecreased motor skillsDevelopmental delaysIntellectual disability
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 historyDo a physical examWork with specialists to diagnose the condition
Order tests, such as:
Enzyme testing (skin, blood, urine)Screening tests for vision and hearingElectroretinogram—measures response of cells in the retina of the eyeNeuropsychological testing—measures mental functionMRI scan
—a test that uses magnetic waves to make pictures of structures inside the brain, may be done along with another test called magnetic resonance spectroscopy (MRS)
—fluid is taken from the spine and examined
—a sample of tissues is taken and examined
Electromyogram (EMG)—measures electrical impulses in the muscles with a thin needle electrodeOther special tests of the heart, liver, and kidneys
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: DialysisPhysical therapySurgeryMedicines
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).
is transplanted into your child. This may help his body function and slow how fast the disease progresses.
For some conditions, regular annual screening tests will be needed, such as: Vision and hearing testsElectrocardiogram
to assess heart function
There is no way to prevent these kinds of disorders. Prenatal testing and newborn screening may help with early detection.
National Information Center for Metabolic Diseases (CLIMB) website. Available at:
. Accessed August 9, 2010.
Last reviewed June 2012 by Kari Kassir, 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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