Tyrosinemia Type I

Overview

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.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Show More Content Like This

More Overview Content

Are there other names for Tyrosinemia Type I?

How common is Tyrosinemia Type I?

What is the usual abbreviation for Tyrosinemia Type I?

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
References
  • https://rarediseases.org/rare-diseases/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.

References
  • https://ghr.nlm.nih.gov/condition/tyrosinemia#synonyms
What is the usual abbreviation for Tyrosinemia Type I?

Abbreviations for Tyrosinemia Type I include:

  • TT1
  • HT1

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me