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.
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Krabbes sjukdom — Tidig debut av globoidcellsleukodystrofi — Sen debut av globoidcellsleukodystrofi
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