Indicators Of Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a genetic condition that occurs due to an enzyme deficiency. Patients with this disorder have an accumulation of lipids (fat deposits) in the white matter of the brain. Lipids also accumulate in the spinal cord and along the peripheral nerves. The condition is frequently caused by a mutation on a gene called arylsulfatase A or sulfatide sulfatase. Metachromatic leukodystrophy has four different types. The first type (infantile form) develops within the first year of life, and the second type (late infantile form) presents in the first two years of life.