Krabbe disease (Q41174): Difference between revisions
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Doença de Krabbe, também conhecida como leucodistrofia de células globóides, é uma esfingolipidose que resulta da deficiência de galactosilceramida (ou galactocerebrosidase), uma enzima lisossômica que cataboliza o principal componente lipídico da mielina. Essa doença resulta na desmielinização do sistema nervoso central e periférico, que avança rapidamente a partir do primeiro ano de vida, apresenta ainda outras formas- juvenis, com início na adolescência ou na fase adulta já foram reportadas, com uma taxa de progressão mais variável. | |||
| description / en | description / en | ||
Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme that catabolizes a major lipid component of myelin. The disease leads to demyelination of the central and peripheral nervous system which is rapidly progressive from the first year of life, but juvenile, adolescent or adult onset forms have also been reported, with a more variable rate of progression. | |||
Revision as of 07:14, 13 August 2026
Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme that catabolizes a major lipid component of myelin. The disease leads to demyelination of the central and peripheral nervous system which is rapidly progressive from the first year of life, but juvenile, adolescent or adult onset forms have also been reported, with a more variable rate of progression.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A44.4 |
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| English | Krabbe disease |
Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme that catabolizes a major lipid component of myelin. The disease leads to demyelination of the central and peripheral nervous system which is rapidly progressive from the first year of life, but juvenile, adolescent or adult onset forms have also been reported, with a more variable rate of progression. |
