Tyrosinemia Type I

Causes

What gene change causes Tyrosinemia Type I?

Changes in the FAH gene cause Tyrosinemia Type I. This gene provides instructions for making the enzyme fumarylacetoacetate hydrolase that is required for the breakdown of tyrosine. This is the only gene that is known to cause Tyrosinemia Type I.

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 Causes Content

What happens because of that gene change that causes Tyrosinemia Type I?

Does anything make Tyrosinemia Type I worse?

Is the FAH gene a predisposition or a cause?

What happens because of that gene change that causes Tyrosinemia Type I?

When there is a change in the FAH gene, a person becomes deficient of the enzyme fumarylacetoacetate hydrolase because the instructions for producing the enzyme are not working. This enzyme is the enzyme responsible for the breakdown of tyrosine. When it is absent, tyrosine and its metabolites (compounds created as tyrosine breaks down in different steps of the pathway) can build up in the body and cause health problems.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Does anything make Tyrosinemia Type I worse?

The following can make Tyrosinemia Type I worse:

  • A high protein diet
  • Absence of drug treatment
References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Is the FAH gene a predisposition or a cause?

Changes in the FAH gene cause Tyrosinemia Type I.

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

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