Medically reviewed on November 23, 2016
Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in your brain, spinal cord and peripheral nerves.
This buildup is caused by a deficiency of an enzyme that helps break down lipids. Your brain and nervous system progressively lose function.
Rarely, a deficiency in another kind of protein (activator protein) causes metachromatic leukodystrophy.
There are four types of metachromatic leukodystrophy. Each type occurs at different ages, but they may overlap. Each has different signs and symptoms.
The types and approximate age ranges include:
- Infantile form, occurring between birth and 12 months of age
- Late infantile form, occurring between a few months and 2 years of age
- Juvenile form, occurring between ages 3 and 16
- Adult form, occurring after age 16
Your doctor will perform a physical examination and review your symptoms and medical history and check for signs of metachromatic leukodystrophy.
Your doctor may order tests to diagnose your condition. These tests also help determine how severe your condition is.
Blood and urine tests. Blood tests look for an enzyme deficiency that causes metachromatic leukodystrophy.
You may also have urine tests to check for buildup of fatty substances (lipids).
Genetic tests. Your doctor will conduct genetic tests for mutations in the gene associated with metachromatic leukodystrophy.
He or she may also recommend testing family members, particularly women who are pregnant (prenatal testing) for mutations in the gene.
Nerve conduction study. This test measures electrical nerve impulses and function in your muscles and nerves by passing a small current through electrodes on your skin.
Your doctor may use this test to look for nerve damage (peripheral neuropathy), which is common in people with metachromatic leukodystrophy.
Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to produce detailed pictures of your brain.
Your doctor may use this test to determine if you have signs of metachromatic leukodystrophy, which has a characteristic striped pattern (tigroid) of abnormal white matter (leukodystrophy) in your brain.
- Psychological and cognitive tests. Your doctor may test your psychological and thinking (cognitive) abilities. These tests may help determine how the condition affects your brain function.
Metachromatic leukodystrophy can't be cured, and there are few treatment options. But, your doctors will work with you to help manage your signs and symptoms and try to improve your quality of life. Ask Talk to your doctor about the possibility of participating in a clinical trial.
Metachromatic leukodystrophy can be managed with several treatments:
- Medications. Medications may reduce your signs and symptoms and relieve your pain.
- Stem cell transplant. Hematopoietic stem cell transplants sometimes have slowed the progression of metachromatic leukodystrophy by introducing healthy cells to help replace diseased ones.
Physical, occupational and speech therapy. You may have physical therapy to promote muscle and joint flexibility and maintain your range of motion as much as possible. You may need a wheelchair, walker or other assistive devices as your condition progresses.
You may have occupational and speech therapy to improve your quality of life.
Nutritional assistance. You and your family may work with a nutrition specialist (dietitian) to make sure you're getting the right nutrition. Eventually, it may become difficult to swallow food or liquid.
You may need assistive feeding devices as your condition progresses.
Potential future treatments
There are some potential metachromatic leukodystrophy treatments currently in research. These include gene therapy and other types of cell therapy that introduce healthy genes to replace diseased ones.