Overview

Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This buildup is caused by a deficiency of an enzyme that helps break down lipids called sulfatides. The brain and nervous system progressively lose function because the substance that covers and protects the nerve cells (myelin) is damaged.

There are three forms of metachromatic leukodystrophy, which involve different age ranges: late infantile form, juvenile form and adult form. Signs and symptoms can vary. The infantile form is the most common and progresses more rapidly than the other forms.

There is no cure for metachromatic leukodystrophy yet. Depending on the form and age of onset, early identification and treatment may help manage some signs and symptoms and delay progression of the disorder.