has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of disease has basis in accumulation of GALC psychosine galactosylceramidase activity eye degenerative disorder Krabbe disease https://github.com/monarch-initiative/mondo/issues/8028 https://www.malacards.org/card/krabbe_disease galactosylceramide lipidosis SCTID:192782005 SCTID:189979005 icd11.foundation:796317173 A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. Krabbe leukodystrophy galactosylceramidase deficiency Krabbe disease later onset Krabbe disease globoid cell leukodystrophy GARD:0006844 DOID:10587 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] GALC enzyme deficiency GALC deficiency galactocerebrosidase deficiency MEDGEN:44131 GLD ICD10CM:E75.23 Orphanet:487 NCIT:C61254 NORD:1368 diffuse globoid body sclerosis NANDO:1200074 Leukodystrophy, Krabbe's MedDRA:10023492 UMLS:C0023521 MESH:D007965 later-onset Krabbe disease NANDO:2200564 MONDO:0009499 OMIM:245200 Krabbe's leukodystrophy globoid cell leukoencephalopathy leukodystrophy sphingolipidosis hereditary peripheral neuropathy