Article
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
Molecular genetics and metabolism - 1 Jun 1998
Poudrier J, Lettre F, Scriver C R, Larochelle J, Tanguay R M
Abstract excerpt
Hereditary tyrosinemia type I (HTI, McKusick 276700) is an autosomal recessive disease caused by deficient fumarylacetoacetate hydrolase (FAH, EC 3.7.1.2) activity. HTI is characterized by progressive liver dysfunction with nodular cirrhosis often leading to hepatocellular carcinoma. Two extremes...
Topics
- Acute Disease
- Adolescent
- Amino Acid Metabolism, Inborn Errors
- Child
- Child, Preschool
- Chronic Disease
- Female
- Genetic Diseases, Inborn
- Genotype
- Heterozygote
- Homozygote
- Humans
- Hydrolases
- Infant
- Infant, Newborn
- Liver
- Mutation
- Pedigree