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What is MLD?
Metachromatic Leukodystrophy (MLD), the
most common form of Leukodystrophy, is a rare inherited neurometabolic
disorder affecting the white matter of the brain (Leukoencephalopathy).
It is characterized by the accumulation of a fatty substance
known as sulfatide (a sphingolipid) in the brain and other
areas of the body (i.e., liver, gall bladder, kidneys, and/or
spleen).
The fatty protective covering on the nerve fibers (myelin)
is lost from areas of the central nervous system (CNS) due
to the buildup of sulfatide.
Symptoms of Metachromatic Leukodystrophy may include convulsions,
seizures, personality changes, spasticity, progressive dementia,
motor disturbances progressing to paralysis, and/or visual
impairment leading to blindness.
Metachromatic Leukodystrophy is inherited as an autosomal
recessive trait. There are three types of the disease that
have similar symptoms.
However, they are distinguished by the age of onset: infantile,
juvenile, and adult forms of Metachromatic Leukodystrophy.
MLD is a rare disease, affecting about one in 100,000 people.
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