Metachromatic Leukodystrophy

What is metachromatic leukodystrophy?

Metachromatic leukodystrophy is a condition caused by the body not having enough of a specific enzyme called arylsulfatase, which breaks down a specific type of fat in the body called sulfatides. This can affect the central nervous system. Symptoms often begin with problems with speech, walking, and tight muscle tone, and later progress to more serious issues. People with metachromatic leukodystrophy can first show signs and symptoms starting around age two, or as late as adulthood.

How common is metachromatic leukodystrophy?

About 1 in 40,000 babies is born with metachromatic leukodystrophy worldwide each year.

What can be done for metachromatic leukodystrophy?

While there is no cure for metachromatic leukodystrophy, some affected people are candidates for stem cell transplant, which can treat some symptoms of the condition. This therapy is most effective when it is performed very early after diagnosis. The FDA is also reviewing promising drug therapies for the treatment of metachromatic leukodystrophy. Both stem cell transplant and drug therapy are aimed at reducing the symptoms of metachromatic leukodystrophy, and providing people with this condition a better quality of life.

How is metachromatic leukodystrophy inherited?

Metachromatic leukodystrophy is caused by changes in the ARSA gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the ARSA gene, one from each parent, in order to have the disease. People who have only one copy of the altered ARSA gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for metachromatic leukodystrophy through Eli screening, genetic counseling and additional testing in the parents is recommended.


ready to puchase eli?

Give your baby the best possible start to life with Eli.

Order Eli