Find Support With:
Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Tyrosinemia can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Tyrosinemia.
About Tyrosinemia
People affected by Tyrosinemia are not able to break down an amino acid known as Tyrosine. If untreated, Tyrosinemia results in a buildup of Tyrosine and its byproducts in the tissues and organs. This can cause severe health problems.
There are three types of Tyrosinemia. The symptoms of untreated Tyrosinemia vary by type and may include poor weight gain, diarrhea, vomiting, jaundice, a cabbage-like odor, nosebleeds, liver and kidney failure, weakening of the bones, intellectual disability, seizures, and respiratory failure. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Tyrosinemia Type I affects approximately 1 in 100,000 babies in the United States.
Tyrosinemia Type II affects approximately 1 in 250,000 babies in the United States.
Tyrosinemia Type III is very rare. Only a few children have been diagnosed with this type.
Condition Type
Tyrosinemia is an Amino Acid Disorder.
Also Known As
FAH Deficiency, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia, Hypertyrosinemia, Succinylacetone, TYR I, TYR II, TYR III, Tyrosine, Tyrosinosis