Disease

Krabbe Disease

About the Disease
Krabbe Disease, also known as galactosylceramide beta-galactosidase deficiency, 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone marrow, and related phenotypes are developmental regression and progressive spasticity

Common Targets
PPARA | CYSLTR1 | THRB | PDE10A | ASAH1 | Chaperone (nonspecified subtype) | UGT8 | MIF | HCAR2 | THRA | G7099 | GALC | AMP-activated protein kinase (AMPK) | Phosphodiesterase IV (PDE4) (nonspecified subtype)

疾病靶点研报
Krabbe Disease

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