What Are The Types Of Leukodystrophy?

Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a disease where an individual's body does not produce enough of an enzyme referred to as arylsulfatase A. Arysulfatase A metabolizes certain fats called sulfatides, which are effectively broken down in healthy individuals. However, these sulfatides start to build up in the cells of vital organs, including the brain, spinal cord, and kidneys, when an individual lacks arylsulfatase A. Most cases of metachromatic leukodystrophy are caused by an inherited genetic mutation that causes this enzyme deficiency. Symptoms of metachromatic leukodystrophy include abnormal muscle movement, decreased mental function, difficulty walking, frequent falls, irritability, problems with nerve function, difficulty speaking, behavior problems, decreased muscle tone, difficulty eating, incontinence, loss of muscle control, seizure, and difficulty swallowing. Blood tests, physical examination, urine tests, nerve conduction study, and MRIs are used to diagnose metachromatic leukodystrophy. Treatment for metachromatic leukodystrophy includes medications, therapy, nutritional assistance, bone marrow transplant, and cord blood transplant.

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