Overview

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

Metachromatic leukodystrophy care at Mayo Clinic

Nov. 23, 2016
References
  1. NINDS metachromatic leukodystrophy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm. Accessed Sept. 8, 2016.
  2. Cruse RP. Metachromatic leukodystrophy. http://www.uptodate.com/home. Accessed Sept. 8, 2016.
  3. Patil SA, et al. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Design, Development and Therapy. 2013;7:729.
  4. Pagon RA, et al., eds. Arylsulfatase A Deficiency. In: GeneReviews. Seattle, Wash.: University of Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Sept. 8, 2016.
  5. Neurological diagnostic tests and procedures. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/misc/diagnostic_tests.htm. Accessed Sept. 8, 2016.
  6. Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. September 13, 2016.