Newborn screening makes it possible to start treatment even before symptoms occur. Early detection and treatment may dramatically reduce the risk for liver failure, neurological crisis, and liver cancer.
When the presence of tyrosinemia is suspected, a baby's blood or urine will be tested for succinylacetone. It's the toxic substance that builds up in the liver, kidneys, and central nervous system when the body can't effectively break down tyrosine, a natural amino acid from food.
If both parents are carriers of the mutated gene responsible for this disorder, prenatal diagnosis is possible. FAH or succinylacetone levels are measured in the amniotic fluid.
Orfadin is a synthetic reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase indicated for use as an adjunct to dietary restriction of tyrosine and phenylalanine in the treatment of hereditary tyrosinemia type 1 (HT-1).