Article
Wilson disease and related copper disorders.
Handbook of clinical neurology - 1 Jan 2018
Lorincz Matthew T
Abstract excerpt
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described,...
Topics
- Copper
- Copper-Transporting ATPases
- Hepatolenticular Degeneration
- Humans
- Mutation
- Stomach