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Definition

An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy.

Acronym

MLD

Synonyms

ARSA deficiency
Arylsulfatase A deficiency
Cerebral sclerosis, diffuse, metachromatic form
Cerebroside sulfatase deficiency
Metachromatic leukodystrophy, adult
Metachromatic leukodystrophy, juvenile
Metachromatic leukodystrophy, late infantile
Pseudoarylsulfatase A deficiency
Sulfatide lipidosis

Keywords

Metachromatic leukodystrophy

 
Disclaimer

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