Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.
نویسندگان
چکیده
منابع مشابه
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...
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Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This a...
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Krabbe's disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found in myelin. The disease is classically of infantile onset, but adult onset cases have been reported. M...
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A 4-year-old girl presented with increasing falls and progressive limb stiffness noticed for 2 months. There was no history of cognitive decline, seizures, or vision impairment. Examination revealed spastic quadriparesis, with no sensory or cerebellar abnormalities. A suggestive MRI scan of the brain (figure) and reduced galactocerebrosidase activity in leukocytes confirmed the diagnosis of lat...
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Galactosylceramide beta-galactosidase activity was assayed in cultured amniotic fluid cells from two pregnancies at risk for Krabbe's leucodystrophy. The elective termination of one pregnancy was carried out after demonstration of a severe deficiency of galactosylceramide beta-galactosidase activity. The diagnosis of Krabbe's leucodystrophy in the affected fetus was confirmed enzymatically by a...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 47 253 شماره
صفحات -
تاریخ انتشار 1972