Metachromatic Leukodystrophy

Information Page

Publications
Organizations
Clinical Trials
News
Research literature

Disclaimer

Contact Us
My Privacy

NINDS is part of the
National Institutes of
Health

Download Adobe Reader

Table of Contents (click to jump to sections)
What is Metachromatic Leukodystrophy?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Metachromatic Leukodystrophy?

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least 10 different enzymes. The leukodystrophies are caused by genetic defects in how myelin produces or metabolizes these enzymes. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the enzymes. MLD is caused by a deficiency of the enzyme arylsulfatase A. MLD is one of several lipid storage diseases, which result in the toxic buildup of fatty materials (lipids) in cells in the nervous system, liver, and kidneys. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which is the most common MLD, affected children have difficulty walking after the first year of life. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia. Children may become comatose. Most children with this form of MLD die by age 5. Children with the juvenile form of MLD (between 3-10 years of age) usually begin with impaired school performance, mental deterioration, and dementia and then develop symptoms similar to the infantile form but with slower progression. The adult form commonly begins after age 16 as a psychiatric disorder or progressive dementia. Adult-onset MLD progresses more slowly than the infantile form.

Is there any treatment?

What is the prognosis?

What research is being done?

Select this link to view a list of studies currently seeking patients.

Organizations

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Return to top

Last updated February 13, 2007