Tyrosinemia Type I
Inheritance
How is Tyrosinemia Type I inherited?
Tyrosinemia Type I is inherited in an autosomal recessive manner. This means that both copies of the gene have to have changes for the person to show signs and symptoms of the disease. If only one copy of the gene has a change, the person is a carrier for Tyrosinemia Type I and does not have the condition.
If both members of a couple each have a mutation or change in the gene, there is a 25% chance that they will have a baby affected by Tyrosinemia Type I, 50% chance to have a baby who is an unaffected carrier, and 25% chance to have a baby who not affected and not a carrier for a change in the gene.
To find a genetic counselor near you who can discuss the inheritance pattern of Tyrosinemia Type I further, visit the National Society of Genetic Counselors Find a Genetic Counselor website.
References
- Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
- http://www.ncbi.nlm.nih.gov/books/NBK1515/
More Inheritance Content
What does it mean to have a "variant" in the gene for Tyrosinemia Type I?
What does it mean to have a "variant" in the gene for Tyrosinemia Type I?
A variant, also known as a variant of unknown significance, is a change that is found in the FAH gene, but there is not a lot of information about that change. In many instances, a variant of unknown significance is a change that has not been seen before in this gene. When this happens, the lab is not sure whether or not this change is part of normal human genetic variation or if it is a change that will 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/
