What is Metachromatic leukodystrophy?
It is a genetic disorder effecting the white matter or myelin of brain and spinal cord, a type of leukodystrophy. It affects lysosomes, small structures in the cells, and is also known as a lysosomal storage disease. It is caused by an abnormal ARSA gene.
What exactly happens in metachromatic dystrophy?
A mutation in ARSA gene leads to insufficient arylsulfatase-A enzyme, which leads to abnormally high collection of sulfatides in the brain, spinal cord, nerves, and gall bladder. Sulfatides are a type of lipids (fatty substance) and otherwise a normal part of myelin and other cell structures.
Are there different types of metachromatic leukodystrophy?
Based upon age of onset, it is divided in three types: infantile, juvenile, and adult types.
What happens to the patients in metachromatic leukodystrophy?
Infantile form: Loss of motor and cognitive functions (weakness, difficulty walking, talking, etc.), eye movement abnormalities, neuropathy.
Juvenile form: Similar but somewhat late and somewhat slower.
Adult form: Similar with psychiatric disorder.
How is metachromatic leukodystrophy diagnosed?
Low level of serum arylsulfatase-A enzyme, and high level of urine sulfatides in serum can help to make a diagnosis. Abnormal ARSA gene test may confirm it. MRI brain can help, but it can also be normal in early stages.
How is metachromatic leukodystrophy treated?
There is no cure. Stem cell transplantation may help. More recently, gene therapy has shown promise.
Where can I find more information about metachromatic leukodystrophy?
American Academy of Pediatric Neurology Section
United Leukodystrophy Foundation
National Organization for Rare Disorders
Genetic and Rare Diseases Information Center
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