Tyrosinemia Type I

Tyrosinemia Type I is current on the recommended uniform panel for newborn screening. All 50 states screen newborns for this disease by measuring blood tyrosine or succinylacetone levels. Newborns that screen positive are immediately sent for further testing and started on treatment.

Urine samples allow for biochemical testing. People with Tyrosinemia Type I who are untreated will have high levels of succinylacetone in their urine. Those who have succinylacetone in their urine have their diagnosis confirmed by FAH gene testing by a blood test.

To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

Siblings of people with Tyrosinemia Type I have a 25% chance of also having Tyrosinemia Type I.

The parents of people with Tyrosinemia Type I are carriers (have one gene change).

Children of people with Tyrosinemia Type I will be carriers (have one gene change).

It does not matter what sample type is used for the gene testing; however, blood is typically used when testing for Tyrosinemia Type I.