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  • globoid cell leukodystrophy
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  • globoid cell leukodystrophy
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  • leukodystrophy =leukodystropia
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  • leukodystrophy,globoid cell(body)
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  • metachromatic leukodystrophy
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GCL globoid cell leukodystrophy
GLD globoid leukodystrophy; glutamate dehydrogenase
MLD manual lymph drainage; median lethal dose; metachromatic leukodystrophy; minimal lesion disease; min...
OLD obstructive lung disease; orthochromatic leukodystrophy
PML peripheral motor latency; polymorphonuclear leukocyte; posterior mitral leaflet; progressive multifo...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
GLD Globoid cell leukodystrophy
MLD Metachromatic Leukodystrophy
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 4 ÆäÀÌÁö: 1
leukodystrophy <radiology> Type of dysmyelinating disease, hereditary, peripheral nervous system unaffected in some disorders Specific diseases: adrenoleukodystrophy, metachromatic leukodystrophy, spongy degeneration (Canavan), globoid cell (Krabbe) leukodystrophy, Alexander disease, Pelizaeus-Merzbacher disease, Cockayne syndrome
(12 Dec 1998)
leukodystrophy with diffuse Rosenthal fibre formation A metabolic disorder whose onset can be in infancy, adolescence, or adulthood; characterised pathologically by widespread cerebral demyelination with astrocyte and primitive oligodendroglial cell proliferation; refractile Rosenthal fibres result from the degeneration of these proliferating cells; aetiology unknown, but possibly due to a metabolic defect of astrocytes; sex-linked recessive disorder.
(05 Mar 2000)
leukodystrophy, globoid cell An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterised histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of galactosylceramidase.
(12 Dec 1998)
leukodystrophy, metachromatic A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase a). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system.
(12 Dec 1998)
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adrenal leukodystrophy Sudanophilic leukodystrophy with bronzing of skin and adrenal atrophy. A metabolic disorder of young males, characterised by widespread myelin degeneration and associated adrenal insufficiency. The myelin degeneration is massive in various portions of the brain and sometimes the spinal cord, with the accumulation of degradation products of myelin in macrophages: sudanophilic demyelination; atrophy is present in the adrenal glands and testes, and markedly increased amounts of very long-chain fatty acid are present in both the brain and adrenal glands. Symptoms include bronzing of the skin, dysarthria, cortical blindness, bilateral hemiplegia, pseudobulbar paralysis, and progressive dementia. Probably sex-linked recessive inheritance.
(05 Mar 2000)
globoid cell leukodystrophy <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia
Synonym: Krabbe leukodystrophy
(12 Dec 1998)
metachromatic leukodystrophy <radiology> Dysmyelinating disease, autosomal recessive, aryl sulfatase A -- absent from urine and serum, most present by 2 yrs, die at 3-4 yrs, may arise at any age, CT: decreased density of white matter, primarily in centrum semiovale, with or without focal gall bladder defects (!)
(12 Dec 1998)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Leukodystrophy, Globoid Cell - »õâ An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
    Synonyms : Classic Globoid Cell Leukodystrophy, Early-Onset Globoid Cell Leukodystrophy, Galactosylceramide-beta-Galactosidase Deficiency Disease, Globoid Body Sclerosis, Diffuse, Globoid Cell Leukodystrophy, Globoid Leukodystrophy, Krabbe Leukodystrophy
  • Leukodystrophy, Metachromatic - »õâ An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
    Synonyms : Greenfield Disease, Greenfield's Disease, Leukodystrophy, Metachromatic, Adult, Leukodystrophy, Metachromatic, Juvenile, Metachromatic Leukodystrophy, Adult-Type, Metachromatic Leukodystrophy, Infant, Metachromatic Leukodystrophy, Infant-Type
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  • Leukodystrophy - metachromatic - »õâ
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leukodystrophy Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. ...
Ãâó: en.wikipedia.org/wiki/Leukodystrophy
leukodystrophy a group of childhood genetic disorders in which the protective coverings of the nerves are destroyed
Ãâó: www.american-depot.com/services/resources_gl_l.asp
leukodystrophy A group of genetic disorders characterized by the imperfect development or maintenance of myelin. Diseases in this class include adrenoleukodystrophy, Alexander disease, Canavan disease, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Refsum disease, and phenylketonuria.
Ãâó: www.myelin.org/glossary.htm
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