Krabbe disease (Q41174): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / CURIE | |||
CID11:8A44.4 | |||
| Property / CURIE: CID11:8A44.4 / rank | |||
Normal rank | |||
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 |
||
| 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. |
Statements
CID11:8A44.4
0 references
