Globoid Cell Leukodystrophy (Krabbe Disease)
310
relevant articles (12 outcomes,
18 trials/studies)
found for this Disease
Description:
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.
Also Known As:
Krabbe Disease; Leukodystrophy, Globoid; Krabbe Leukodystrophy; Krabbe's Disease; Leukodystrophy, Krabbe; Diffuse Globoid Body Sclerosis; Galactosylceramidase Deficiency Disease; Leukodystrophy, Globoid Cell; Classic Globoid Cell Leukodystrophy; Early-Onset Globoid Cell Leukodystrophy; Galactosylceramide-beta-Galactosidase Deficiency Disease; Globoid Body Sclerosis, Diffuse; Globoid Leukodystrophy; Infantile Globoid Cell Leukodystrophy; Krabbe's Leukodystrophy; Late-Onset Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Classic; Leukodystrophy, Globoid Cell, Early-Onset; Leukodystrophy, Globoid Cell, Infantile; Leukodystrophy, Globoid Cell, Late-Onset; Deficiency Disease, Galactosylceramidase; Deficiency Disease, Galactosylceramide-beta-Galactosidase; Deficiency Diseases, Galactosylceramidase; Deficiency Diseases, Galactosylceramide-beta-Galactosidase; Disease, Galactosylceramidase Deficiency; Disease, Galactosylceramide-beta-Galactosidase Deficiency; Diseases, Galactosylceramidase Deficiency; Diseases, Galactosylceramide-beta-Galactosidase Deficiency; Early Onset Globoid Cell Leukodystrophy; Galactosylceramidase Deficiency Diseases; Galactosylceramide beta Galactosidase Deficiency Disease; Galactosylceramide-beta-Galactosidase Deficiency Diseases; Globoid Cell Leukodystrophies; Globoid Leukodystrophies; Krabbes Disease; Krabbes Leukodystrophy; Late Onset Globoid Cell Leukodystrophy; Leukodystrophies, Globoid; Leukodystrophies, Globoid Cell; Leukodystrophy, Krabbe's
Relationship Network
Disease Context: Research Results