metachromatic leukodystrophy


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Related to metachromatic leukodystrophy: Krabbe disease, adrenoleukodystrophy

leukodystrophy

 [loo″ko-dis´tro-fe]
disturbance of the white substance of the brain. See also adrenoleukodystrophy and leukoencephalopathy.
metachromatic leukodystrophy a hereditary leukoencephalopathy, marked by accumulation of a sphingolipid (sulfatide) in tissues, with diffuse loss of myelin in the central nervous system and progressive dementia and paralysis; classified according to age of onset as infantile, juvenile, and adult.

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].

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.

Treatment
All therapies are experimental; none are effective.

Prognosis
Universally fatal.

metachromatic leukodystrophy

Neurology An AR lysosomal storage disease caused by arylsulfatase. A deficiency, characterized by sulfated sphingolipid accumulation, ↓ myelin Clinical forms Infantile form–most severe; adult form–least severe; juvenile form–intermediate Clinical Onset by age 2, death by age 5 with upper and lower motor neuron disease, ↓ nerve conduction, spasms, ataxia, oculomotor paralysis, bulbar palsy, blindness, deafness, dementia. See Arylsulfatase A, Leukodystrophy.

met·a·chro·mat·ic leu·ko·dys·tro·phy

(MLD) (met'ă-krō-mat'ik lū'kō-dis'trŏ-fē)
A metabolic disorder, usually of infancy, characterized by myelin loss, accumulation of metachromatic lipids (galactosyl sulfatidates) in the white matter of the central and peripheral nervous systems, progressive paralysis, and mental retardation; psychosis and dementia are seen in adults.
References in periodicals archive ?
Wenger, "Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy," Gene, vol.
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy. Ann Clin Translat Neurol.
Metachromatic leukodystrophy has predominant periventricular white matter involvement with tigroid pattern and spares the subcortical U fibres until late in the disease.
* The report assesses Metachromatic Leukodystrophy (MLD) therapeutics based on drug target, mechanism of action (MoA), route of administration (RoA) and molecule type
In total 16 patients with Wiskott-Aldrich syndrome and 10 with metachromatic leukodystrophy were treated.
Metachromatic leukodystrophy (MLD) is a rare inherited neurodegenerative lysosomal disease caused by deficient activity of arylsulphatase A (1).
Carrie Graham was touched by the plight of three-year-old Sameer Akeel, who has been diagnosed with the rare terminal illness metachromatic leukodystrophy.
Metachromatic Leukodystrophy (MLD) is a rare, genetic, degenerative disorder that affects one in 150,000 people worldwide
Tests were carried out and on his third birthday Stephen was diagnosed with the degenerative condition Metachromatic Leukodystrophy.
"When its onset is in adolescence, metachromatic leukodystrophy is commonly associated with psychotic symptoms and thought fragmentation, Dr.
Alzheimer's disease Pick's disease Huntington's disease Progressive supranuclear palsy Parkinson's disease (not all cases) Cerebellar degenerations Amyotrophic lateral sclerosis (ALS) (not all cases) Parkinson -- ALS-dementia complex of Guam and other island areas Rare genetic and metabolis disease (Hallervorden-Sparz, Kufs', Wilson's, late-onset metachromatic leukodystrophy, adrenoleukdystrophy)
The company is currently studying MGTA-456 in a Phase 2 clinical trial in patients older than 6 months of age with Hurler syndrome, cerebral adrenoleukodystrophy, metachromatic leukodystrophy or globoid cell leukodystrophy.