Metachromatic Leukodystrophy

Overview

In metachromatic leukodystrophy, a rare hereditary (genetic) disorder, a deficient enzyme that helps break down fatty substances (lipids), causes lipids to build up in your brain, spinal cord and peripheral nerves. This causes your brain and nervous system to progressively deteriorate and lose function. Rarely, a deficient non-enzyme 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 sometimes may overlap, include:

• Late infantile form, occurring between ages 6 months and 2
• Juvenile form, occurring between ages 4 and 8 (early juvenile) or between ages 6 and 16 (late juvenile)
• Adult form, occurring after age 16

Why choose Mayo Clinic

• 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 who have metachromatic leukodystrophy.
• Individual treatment program. Doctors will work with you or your child to determine an appropriate treatment program to meet your 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., is ranked among the Best Hospitals for neurology and neurosurgery by U.S. News & World Report. Mayo Clinic in Scottsdale, Ariz., and Mayo Clinic in Jacksonville, Fla., are 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.