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Definition
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 or
- Are 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 Sachs
- Wilson’s disease
- Phenylketonuria (PKU)
- Lysosomal storage diseases
Causes
These diseases are caused by a genetic defect passed on from parent(s) to child.
Risk Factors
Risk factors include:
- Family history
- Certain ethnic backgrounds (Ashkenazi Jewish, Finnish, Dutch)
Symptoms
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 features
- Enlarged tongue
- Cloudy eyes
- Purple-blue skin rash
- Swollen abdomen
- Skeletal deformities
- Short stature
- Lack of muscle control
- Seizures
- Decreased motor skills
- Developmental delays
- Intellectual disability
These symptoms may be caused by other conditions. If your child has any of these, talk to the doctor.
Diagnosis
The doctor will:
- Ask about your child’s symptoms and medical history
- Do a physical exam
- Work with specialists to diagnose the condition
-
Order tests, such as:
- Enzyme testing (skin, blood, urine)
- Screening tests for vision and hearing
- Electroretinogram—measures response of cells in the retina of the eye
- Neuropsychological testing—measures mental function
- MRI 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)
- Spinal tap —fluid is taken from the spine and examined
- Tissue biopsy —a sample of tissues is taken and examined
- Electromyogram (EMG)—measures electrical impulses in the muscles with a thin needle electrode
- Other special tests of the heart, liver, and kidneys
Before your baby is born, prenatal tests can check for metabolic diseases.
Treatment
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:
Nutrition
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.
Ongoing Symptom Management
To manage symptoms and other conditions, your child may need:
- Dialysis
- Physical therapy
- Surgery
- Medicines
Substrate Synthesis Inhibition Therapy (SSI)
This is a special medicine to help the body make less cell waste.
Enzyme Replacement Therapy (ERT)
A missing enzyme is given through a needle placed in the vein (IV).
Bone Marrow Transplant
Healthy bone marrow is transplanted into your child. This may help his body function and slow how fast the disease progresses.
Ongoing Monitoring
For some conditions, regular annual screening tests will be needed, such as:
- Vision and hearing tests
- Electrocardiogram and echocardiogram to assess heart function
