Tyrosinemia, Type I (TYR I)
Tyrosinemia, Type I (TYR I) is an inborn error of metabolism, an inherited condition in which an enzyme, fumarylacetoacetate hydrolase, in the body is either missing or not working well. The job of this enzyme is to help break down the amino acid tyrosine (a part of protein). Tyrosinemia Type I is considered an amino acid condition. If untreated, tyrosine and other substances build up in tissues and organs and can lead to serious medical problems such as failure to grow as expected, liver damage, kidney damage, bleeding, problems affecting the nervous system or neurologic crises, an increased risk of liver cancer and/or other potential signs and symptoms. Early detection and ongoing management can benefit children with this condition. Supportive resources are available to help families living with this condition.
For more information about Tyrosinemia, Type I, go to Screening, Technology, and Research in Genetics (STAR-G): Tyrosinemia, Type I and Baby's First Test: Tyrosinemia, Type I. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.