Article
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
Human mutation - 1 Jan 1997
St-Louis M, Tanguay R M
Abstract excerpt
Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutat...
Topics
- Amino Acid Metabolism, Inborn Errors
- Animals
- Disease Models, Animal
- Humans
- Hydrolases
- Mice
- Mutation
- Tyrosine