Tyrosinemia Type I
What is Tyrosinemia Type I?
Tyrosinemia Type I is a genetic disease that happens when a person’s body does not have the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme helps break down tyrosine, a building block of proteins. When this enzyme is absent, a toxic compound, succinylacetone, is produced. The presence of succinylacetone as well as the build up of tyrosine leads to a variety of health complications that can be lethal if left untreated.
- Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
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Are there other names for Tyrosinemia Type I?
Other names for Tyrosinemia Type I include:
- FAH deficiency
- fumarylacetoacetase deficiency
- fumarylacetoacetate hydrolase deficiency
- hepatorenal tyrosinemia
- hereditary tyrosinemia type 1
How common is Tyrosinemia Type I?
Tyrosinemia Type I occurs in 1 in 100,000 individuals world wide. In some areas of the world, it can be more common. For example in Norway, 1 in 60,000 to 74,000 individuals are affected. In Quebec, Canada, it affects 1 in 16,000 individuals.
What is the usual abbreviation for Tyrosinemia Type I?
Abbreviations for Tyrosinemia Type I include: