disease 1,408 words KG: ent-dise-b9aba8b7 2026-03-29
kind:diseasesection:diseasestopic:parkinsonsstate:published
Contents

Wilson's Disease

Disease Info
Fenton reactionCu⁺ + H₂O₂ → Cu²⁺ + OH• + OH⁻
Harber-Weiss reactionCu²⁺ + O₂•⁻ → Cu⁺ + O₂
Mitochondrial complex IV inhibitioncopper directly inhibits cytochrome c oxidase, impairing oxidative phosphorylation
Glutathione depletioncopper binds to reduced glutathione (GSH), depleting the primary cellular antioxidant
Alpha-synuclein aggregationcopper accelerates the misfolding and aggregation of alpha-synuclein, similar to mechanisms in Parkinson's disease
Ceruloplasmin oxidationloss of functional ceruloplasmin reduces iron export, contributing to iron accumulation in the brain[@lorincz2010]
Chronic hepatitiselevated ALT, AST, with or without symptoms
Cirrhosismacronodular cirrhosis, portal hypertension
Fulminant hepatic failurecoagulopathy, hemolysis, jaundice. Occurs in 5-10% of patients, more common in females. Associated with Coombs-negative hemolytic anemia due to massive copper release[@schilsky1999]
Hepatocellular carcinomarisk elevated in cirrhotic patients
Dystoniathe most common movement disorder, ranging from focal (blepharospasm, risus sardonicus) to generalized[@litwin2015]
Parkinsonismbradykinesia, rigidity, tremor (resting or postural). Tremor is often "wing-beating" (proximal)
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (3)

Smartphone-Detected Motor Variability Correction
Score: 0.56
Microbial Metabolite-Mediated α-Synuclein Disaggregation
Score: 0.45
Enteric Nervous System Prion-Like Propagation Blockade
Score: 0.44

Related Analyses (17)

TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived

Related Experiments (1)

Gandouling protection against brain injury in Wilson's disea
validation · proposed · Score: 0.90