einstein (São Paulo). 20/Sep/2012;10(2):233-5.
Krabbe disease: the importance of early diagnosis for prognosis
DOI: 10.1590/S1679-45082012000200019
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 article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
Krabbe disease: the importance of early diagnosis for prognosis
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