In metachromatic leukodystrophy, a rare hereditary (genetic) disorder, deficiency of an enzyme that helps break down fatty substances (lipids) causes lipids to build up in your brain, spinal cord and peripheral nerves. As a result, your brain and nervous system progressively lose function.

Rarely, a deficient nonenzyme protein (activator protein) causes metachromatic leukodystrophy.

You or your child may have one of three types of metachromatic leukodystrophy. Each type occurs at different ages and has different signs and symptoms.

The types, which may overlap, include:

  • Infantile form, occurring between ages 6 months and 2 years
  • Juvenile form, occurring between ages 3 and 6 (early juvenile) or between ages 6 and 16 (late juvenile)
  • Adult form, occurring at age 17 or older

Why choose Mayo Clinic for metachromatic leukodystrophy

  • Experience. Mayo Clinic doctors trained in nervous system conditions (neurologists) and others are experienced in evaluating and treating metachromatic leukodystrophy and related disorders. Mayo Clinic doctors evaluate and treat more than 40 people with metachromatic leukodystrophy each year.
  • Teamwork. At Mayo Clinic, an integrated team of doctors trained in nervous system conditions (neurologists), genetic disorders (medical geneticists) and other specialties collaborate to evaluate and treat people with metachromatic leukodystrophy.
  • Individual treatment program. Doctors will work with you or your child to determine an appropriate treatment program to meet your or your child’s needs.
  • Newest research and developments. Mayo Clinic doctors provide you with state-of-the-art care and access to new developments and appropriate clinical trials.

Mayo Clinic in Rochester, Minn., ranks #1 for neurology and neurosurgery in the U.S. News & World Report Best Hospitals rankings. Mayo Clinic in Scottsdale, Ariz., is ranked among the Best Hospitals for neurology and neurosurgery, and Mayo Clinic in Jacksonville, Fla., is ranked high performing for neurology and neurosurgery by U.S. News & World Report. Mayo Clinic also ranks among the Best Children's Hospitals for neurology and neurosurgery.

At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.

Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.

Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.

Why Choose Mayo Clinic

What Sets Mayo Clinic Apart

Mayo Clinic doctors trained in nervous system conditions (neurologists) and other areas diagnose people with metachromatic leukodystrophy.

To diagnose metachromatic leukodystrophy, your doctor will conduct a physical examination and review your symptoms and medical history. Your doctor will check for signs of metachromatic leukodystrophy.

Your doctor may order tests to diagnose your condition and determine the severity of your condition.

  • Blood and urine tests. Your doctor will conduct blood tests 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 and women who are pregnant (prenatal testing) for mutations in the gene.

  • Nerve conduction study. This test measures electrical nerve impulses and functioning in your muscles and nerves. A specialist places electrodes on your skin. The study measures the electrical impulses in your nerve signals when a small current passes through the nerve.

    Your doctor may use this test to look for nerve damage (peripheral neuropathy), a common finding in people with metachromatic leukodystrophy.

  • Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to produce detailed views of your brain in multiple planes.

    Your doctor may use this test to determine if you have characteristics of metachromatic leukodystrophy, including 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 in determining the effect of the condition on your brain functions.

Doctors trained in nervous system conditions (neurologists) and other areas coordinate your treatment. Doctors work with you to determine the most appropriate treatment for your needs.

Metachromatic leukodystrophy can't be cured, and few treatment options are available. Your doctors will work with you to help manage your signs and symptoms and potentially improve your quality of life. You may have access to clinical trials.

Your doctor may help you manage your condition using several treatments:

  • Medications. Medications may reduce your signs and symptoms and relieve your pain.
  • Bone marrow transplant. Bone marrow transplant sometimes has slowed the progression of metachromatic leukodystrophy.
  • Physical, occupational and speech therapy. You may have physical therapy to move your muscles and joints, to keep joints flexible 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 determine how to provide your diet, as it may become difficult to swallow food or liquid.

    You may need assistive feeding devices as your condition progresses.

  • Follow-up care. Doctors will coordinate your follow-up care with your primary doctor. In follow-up care, doctors will monitor you for changes in movement, swallowing, communication, behavior and other functions. Doctors will also provide comprehensive care and treat any other medical conditions.

    Mayo Clinic staff offers various resources, education and information for your family and can help connect you to support groups. You and your family may also work with a genetic counselor.

Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.

Specialists in neurology care for adults with metachromatic leukodystrophy at Mayo Clinic in Arizona.

For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.

Specialists in neurology care for adults with metachromatic leukodystrophy at Mayo Clinic in Florida.

For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.

Specialists in neurology, physical and occupational therapy, nutrition, physical medicine and rehabilitation, orthopedic surgery, gastroenterology and hepatology, pediatrics, ophthalmology, medical genetics, and other areas care for adults and children with metachromatic leukodystrophy at Mayo Clinic in Minnesota.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

Pediatric specialists in child and adolescent neurology, physical and occupational therapy, nutrition, physical medicine and rehabilitation, pediatrics, gastroenterology and hepatology, ophthalmology, medical genetics, and other areas care for children with metachromatic leukodystrophy at Mayo Clinic in Minnesota.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.

Mayo Clinic researchers in hereditary conditions (medical genetics), nervous system conditions (neurology) and other areas study causes, diagnostic tests and potential treatments for metachromatic leukodystrophy and other conditions.

Researchers study enzyme replacement therapy, gene therapy and other potential treatments for metachromatic leukodystrophy.

Publications

See a list of publications by Mayo Clinic authors on metachromatic leukodystrophy on PubMed, a service by the National Library of Medicine.

Feb. 13, 2014