Metachromatic leukodystrophy is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be present in order for the disease to develop.
This enzyme breaks down cerebroside sulfate into cerebroside and sulfate. This enzyme is deficient in metachromatic leukodystrophy.
Deficiency of arylsulfatase A causes buildup of cerebroside sulfate in tissues.
Buildup of cerebroside sulfate affects the growth and development of myelin leading to demyelination.
Ataxia refers to lack of coordination of muscle movements caused by damage to the nervous system.
Dementia is loss of cognitive ability due to damage to the CNS and is commonly seen in metachromatic leukodystrophy.
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