Abstract
Brain tissue from a fetus with the diagnosis of metachromatic leukodystrophy (MLD) became available at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Brain / metabolism*
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Central Nervous System / ultrastructure*
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Cerebroside-Sulfatase / metabolism
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Cerebroside-Sulfatase / therapeutic use
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Culture Techniques
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Female
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Fetal Diseases / metabolism
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Fetal Diseases / pathology
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Humans
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Leukodystrophy, Metachromatic* / drug therapy
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Leukodystrophy, Metachromatic* / metabolism
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Leukodystrophy, Metachromatic* / pathology
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Myelin Proteins / metabolism
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Pregnancy
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Sulfoglycosphingolipids / metabolism*
Substances
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Myelin Proteins
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Sulfoglycosphingolipids
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Cerebroside-Sulfatase