What is metachromatic leukodystrophy?
Metachromatic leukodystrophy (MLD), also known as globoid cell leukodystrophy, is one of a group of genetic disorders characterized by the toxic buildup of lipids (fatty materials like oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves. The buildup of storage materials impairs the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers.
Individuals with MLD have mutations in the ARSA or PSAP genes, which cause a deficiency of the enzyme arylsulfatase A and a decreased ability to break down sulfatides. Sulfatides are essential components of the myelin sheath. However, an excess of sulfatides can be toxic to the nervous system, gradually destroying myelin-producing cells and leading to nervous system impairment.
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.
The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. People affected by the adult form typically die within six to 14 years following onset of symptoms.
How can I or my loved one help improve care for people with metachromatic leukodystrophy?
Consider participating in a clinical trial so clinicians and scientists can learn more about MLD and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with MLD at Clinicaltrials.gov.
Where can I find more information about metachromatic leukodystrophy?
The following organizations and resources help individuals with MLD and their families, friends, and caregivers:
Genetic and Rare Diseases (GARD) Information Center
Phone: 800-617-8387 or 503-656-4808
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673
National Tay-Sachs and Allied Diseases Association (NTSAD)
United Leukodystrophy Foundation
Phone: 815-748-3211 or 800-728-5483