Leukodystrophy, Globoid Cell

Leukodystrofi, globoidcell

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.

Engelsk definition

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.

Svenska synonymer

GLD Globoidcellsleukodystrofi Krabbes sjukdom

Engelska synonymer

Cell Leukodystrophies, Globoid Cell Leukodystrophy, Globoid Globoid Cell Leukodystrophies Leukodystrophies, Globoid Cell Galactosylceramidase Deficiency Disease Deficiency Disease, Galactosylceramidase Deficiency Diseases, Galactosylceramidase Disease, Galactosylceramidase Deficiency Diseases, Galactosylceramidase Deficiency Galactosylceramidase Deficiency Diseases 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-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 GALC Deficiency Deficiencies, GALC Deficiency, GALC GALC Deficiencies Globoid Body Sclerosis, Diffuse Globoid Cell Leukodystrophy Globoid Cell Leukoencephalopathy Cell Leukoencephalopathies, Globoid Cell Leukoencephalopathy, Globoid Globoid Cell Leukoencephalopathies Leukoencephalopathies, Globoid Cell Leukoencephalopathy, Globoid Cell Globoid Leukodystrophy Globoid Leukodystrophies Leukodystrophies, Globoid Leukodystrophy, Globoid Krabbe Disease Krabbe Leukodystrophy Leukodystrophy, Krabbe Krabbe's Disease Krabbes Disease Krabbe's Leukodystrophy Krabbes Leukodystrophy Leukodystrophy, Krabbe's Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Diffuse Globoid Body Sclerosis Galactocerebrosidase Deficiency Deficiencies, Galactocerebrosidase Deficiency, Galactocerebrosidase Galactocerebrosidase Deficiencies Early-Onset Globoid Cell Leukodystrophy Early Onset Globoid Cell Leukodystrophy Leukodystrophy, Globoid Cell, Classic Classic Globoid Cell Leukodystrophy Leukodystrophy, Globoid Cell, Infantile Infantile Globoid Cell Leukodystrophy Leukodystrophy, Globoid Cell, Early-Onset Late-Onset Globoid Cell Leukodystrophy Late Onset Globoid Cell Leukodystrophy Leukodystrophy, Globoid Cell, Late-Onset