metachromatic leukodystrophy वाक्य
उदाहरण वाक्य
मोबाइल
- Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.
- Three of the children had metachromatic leukodystrophy, which causes children to lose cognitive and motor skills.
- This then results in demyelination because of the buildup of sulfatide and is the main cause of Metachromatic Leukodystrophy.
- For more on this story, metachromatic leukodystrophy and related links, go to http : / / www . ajc . com
- The girls, healthy until two years ago, have been rendered helpless by a rare and fatal genetic disease called metachromatic leukodystrophy.
- Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
- The main members of this group are Niemann Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay Sachs disease and metachromatic leukodystrophy.
- Eds : Photo is of a hospice worker and a terminally ill girl, Sholanda Benson, who has metachromatic leukodystrophy, a fatal genetic disease.
- The Foundation's beginnings were inspired by Dr . Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset Metachromatic leukodystrophy.
- They further investigated the role of steroid sulfatases in metachromatic leukodystrophy and multiple sulfatase deficiency, and they identified acid ceramidase as the enzyme deficient in Farber s disease.
- An abnormal metabolism or change in the expression of sulfatide has also been associated with various pathologies, including neuropathologies, such as metachromatic leukodystrophy, Alzheimer's disease, and Parkinson's Disease.
- "' Metazym "'is an experimental recombinant enzyme that was studied in patients with late infantile metachromatic leukodystrophy, but found to be ineffective under the conditions of that trial.
- Elevated levels of sulfatide are also associated with Metachromatic Leukodystrophy, which leads to the progressive loss of myelin as a result of sulfatide accumulation in the Schwann cells, oligodendrocytes, astrocytes, macrophages and neurons.
- White matter degeneration is associated with and makes differential diagnoses out of other adult onset leukodystrophies such as metachromatic leukodystrophy ( MLD ), Krabbe disease ( globoid cell leukodystrophy ), and X-linked adrenoleukodystrophy ( X-ADL ).
- "' Metachromatic leukodystrophy "'( "'MLD "', also called "'Arylsulfatase A deficiency "') is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
- This discovery assisted other scientists in the elucidation of similar glycolipid storage diseases such as Gaucher's disease and cerebroside-3-sulfate, a lipid found in high concentrations in patients afflicted with Metachromatic leukodystrophy were known to have helped in the later-day therapeutic protocols.
- Treatment is still being studied and evaluated, but mice studies indicate that treatments, including gene therapy, cell-based therapies using oligodendrocyte progenitors cells, enzyme replacement therapy, or lentiviral mediated gene therapy may prove to be effective in reducing the effects of Metachromatic Leukodystrophy.
- Most of the research so far has been done on five types : ( 1 ) Metachromatic Leukodystrophy ( MLD ), ( 2 ) Krabbe Disease, ( 3 ) X-Linked adrenoleukodystrophy ( ALD ), ( 4 ) Canavan Disease, and ( 5 ) Alexander Disease.
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