Tyrosinemia is a hereditary inborn error of metabolism that causes liver disease in infancy. Affected persons commonly develop cirrhosis of the liver and will eventually require a liver transplant to survive.
Astoria-Pacific’s SPOTCHECK Tyrosine test* was used as an aid in screening for hypertyrosinemia due to decreased levels of p-hydroxyphenylpyruvate oxidase (p-HPPA oxidase) activity in newborns for many years until it was moved over to Tandem MS/MS. This test was most frequently seen as a transient low enzyme activity due to late maturation of the enzyme in newborns resulting in the temporary elevation of both tyrosine and phenylalanine in the blood.
*NOTE: Since this test is now conducted on Tandem MS/MS, this application is no longer offered by Astoria-Pacific. This page, however, is dedicated to a crucial test that saved many lives in the past, and we were honored to serve our clients for all those years.