A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. [ Orphanet:487 ]
Synonyms: Krabbe's disease galactosylceramidase deficiency globoid cell leukoencephalopathy galactocerebrosidase deficiency Krabbe disease diffuse globoid body sclerosis Krabbe's leukodystrophy GALC deficiency globoid cell leukodystrophy beta galactocerebrosidase deficiency galactosylceramide lipidosis
Term information
- ICD10CM:E75.23 (MONDO:equivalentTo)
- OMIM:245200 (Orphanet:487/e)
- MedDRA:10023492 (Orphanet:487/e)
- MESH:D007965 (MONDO:equivalentTo)
- DOID:10587 (MONDO:equivalentTo)
- NCIT:C61254 (MONDO:equivalentTo)
- Orphanet:487 (OMIM:245200)
- SCTID:189979005 (MONDO:equivalentTo)
- NORD:1368 (MONDO:NORD)
- UMLS:C0023521 (Orphanet:487/e)
- GARD:6844 (Orphanet:487)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137]
http://www.orpha.net/ORDO/Orphanet_487
https://omim.org/entry/245200
http://identifiers.org/mesh/D007965
http://purl.obolibrary.org/obo/DOID_10587
http://purl.bioontology.org/ontology/ICD10CM/E75.23
http://purl.obolibrary.org/obo/NCIT_C61254
http://linkedlifedata.com/resource/umls/id/C0023521
http://identifiers.org/snomedct/189979005