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/
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/
