arylsulfatase A deficiency

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met·a·chro·mat·ic leu·ko·dys·tro·phy

[MIM*250100, MIM*249900]
a metabolic disorder, with onset usually in the second year of life and death often before age 5 years, with loss of myelin and accumulation of metachromatic lipids (galactosyl sulfatidates) in the white matter of the central and peripheral nervous systems leading to motor symptoms, paralysis, convulsions, and progressive cerebral deterioration. Autosomal recessive inheritance caused by mutation in either the arylsulfatase A gene (ARSA) on 22q or the prosaposin gene (PSAP) on 10q. There is a dominant form occurring in adults [MIM*156310].
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metachromatic leukodystrophy

An autosomal recessive lysosomal storage disease (OMIM:250100) caused by arylsulfatase A deficiency, characterised by an accumulation of sulphated sphingolipid (cerebroside-3-sulfate) in neural and non-neural tissues, and a diffuse loss of myelin in the CNS.

Clinical findings
Onset by age two, death by age five, with upper and lower motor neuron disease, decreased nerve conduction, spasms, ataxia, oculomotor paralysis, bulbar palsy, blindness, deafness, and dementia.

Molecular pathology
Defects in ARSA on chromosome 22q13.31-qter, which encodes arylsulfatase A, causes metachromatic leukodystrophy.

All therapies are experimental; none are effective.

Universally fatal.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

arylsulfatase A deficiency

Metachromatic leukodystrophy, see there.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.