Svensk definition
En autosomalt recessiv ämnesomsättningssjukdom orsakad av brist på galaktosylceramidas, vilken leder till ansamling av galaktolipider, så som galaktosylceramider och psykosin, i lysosomerna. Sjukdomen kännetecknas av myelinförlust förenad med stora, flerkärniga globoidceller, främst i centrala nervsystemets vita substans. Förlusten av myelin avbryter normal överföring av nervimpulser.
Svenska synonymer
Krabbes sjukdom — Tidig debut av globoidcellsleukodystrofi — Sen debut av globoidcellsleukodystrofi
Engelska synonymer
Cell Leukodystrophies, Globoid — Cell Leukodystrophy, Globoid — Globoid Cell Leukodystrophies — Leukodystrophies, Globoid Cell — Psychosine Lipidosis — Diffuse Globoid Body Sclerosis — Galactosylceramidase Deficiency Disease — Deficiency Disease, Galactosylceramidase — Deficiency Diseases, Galactosylceramidase — Disease, Galactosylceramidase Deficiency — Diseases, Galactosylceramidase Deficiency — Galactosylceramidase Deficiency Diseases — Galactosylceramide-beta-Galactosidase Deficiency Disease — Deficiency Disease, Galactosylceramide-beta-Galactosidase — Deficiency Diseases, Galactosylceramide-beta-Galactosidase — Disease, Galactosylceramide-beta-Galactosidase Deficiency — Diseases, Galactosylceramide-beta-Galactosidase Deficiency — Galactosylceramide beta Galactosidase Deficiency Disease — Galactosylceramide-beta-Galactosidase Deficiency Diseases — Globoid Body Sclerosis, Diffuse — Globoid Leukodystrophy — Globoid Leukodystrophies — Leukodystrophies, Globoid — Leukodystrophy, Globoid — Krabbe Leukodystrophy — Leukodystrophy, Krabbe — Krabbe's Leukodystrophy — Krabbes Leukodystrophy — Leukodystrophy, Krabbe's — Globoid Cell Leukodystrophy — Globoid Cell Leukoencephalopathy — Cell Leukoencephalopathies, Globoid — Cell Leukoencephalopathy, Globoid — Globoid Cell Leukoencephalopathies — Leukoencephalopathies, Globoid Cell — Leukoencephalopathy, Globoid Cell — Galactocerebrosidase Deficiency — Deficiencies, Galactocerebrosidase — Deficiency, Galactocerebrosidase — Galactocerebrosidase Deficiencies — GALC Deficiency — Deficiencies, GALC — Deficiency, GALC — GALC Deficiencies — Galactosylceramide beta-Galactosidase Deficiency — Deficiencies, Galactosylceramide beta-Galactosidase — Deficiency, Galactosylceramide beta-Galactosidase — Galactosylceramide beta Galactosidase Deficiency — Galactosylceramide beta-Galactosidase Deficiencies — beta-Galactosidase Deficiencies, Galactosylceramide — beta-Galactosidase Deficiency, Galactosylceramide — Galactosylceramide Lipidosis — Galactosylcerebrosidase Deficiency — Galactosylsphingosine Lipidosis — Krabbe's Disease — Krabbes Disease — Krabbe Disease — Late-Onset Globoid Cell Leukodystrophy — Late Onset Globoid Cell Leukodystrophy — Leukodystrophy, Globoid Cell, Late-Onset — Early-Onset Globoid Cell Leukodystrophy — Early Onset Globoid Cell Leukodystrophy — Leukodystrophy, Globoid Cell, Early-Onset — Leukodystrophy, Globoid Cell, Classic — Leukodystrophy, Globoid Cell, Infantile — Classic Globoid Cell Leukodystrophy — Infantile Globoid Cell Leukodystrophy