metachromatic leukodystrophy

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]. Synonym(s): arylsulfatase A deficiency, sulfatide lipidosis

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.

单词	metachromatic leukodystrophy
释义	DictionarySeeleukodystrophy metachromatic leukodystrophy metachromatic leukodystrophy [¦med·ə·krō′mad·ik ‚lü·kə′dis·trə·fē] (medicine) A hereditary degenerative disease transmitted as an autosomal recessive, due to sulfatase A deficiency, with excess accumulation of sulfated lipids responsible for metachromasia in various tissues. Abbreviated MLD. Also known as sulfatide lipidosis. metachromatic leukodystrophy 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 [MIM250100, MIM249900] 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 [MIM156310]. Synonym(s): arylsulfatase A deficiency, sulfatide lipidosis 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. AcronymsSeemean lethal dose
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