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ENKrabbe Disease (KRB)
Alias:
Globoid Cell Leukodystrophy
Galactosylceramide Beta-Galactosidase Deficiency
Galc Deficiency
Galactocerebrosidase Deficiency
Globoid Cell Leukoencephalopathy
Diffuse Globoid Body Sclerosis
Gld
Galactosylceramidase Deficiency
Leukodystrophy, Globoid Cell
Krabbe's Leukodystrophy
Krb
Gcl
Galactosylceramidase Deficiency Disease
Infantile Globoid Cell Leukodystrophy
Beta Galactocerebrosidase Deficiency
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Galactosylceramide Lipidosis
Krabbe Brain Sclerosis
Krabbe Leukodystrophy
Psychosine Lipidosis
Krabbe's Disease
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Krabbe Disease, also known as globoid cell leukodystrophy, is related to infantile krabbe disease and leukodystrophy, and has symptoms including seizures, vomiting and hyperirritability. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Metabolism and IL-1 Family Signaling Pathways. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are progressive spasticity and reduced galactocerebrosidase activity
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MALACARDS
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