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What causes Tyrosinemia Type 1 and How Is It Diagnosed?

Tyrosinemia Type 1 (HT-1) is an inherited autosomal recessive genetic condition. Unaffected adults are often unaware they carry one of the gene mutations that can cause tyrosinemia type 1 because it takes two of these genes to cause the condition. Babies born with Tyrosinemia Type 1 get one defective gene from each parent.

In the United States, Tyrosinemia Type 1 is primarily diagnosed at birth. Newborn screening typically involves a heel stick blood test. However, a positive screening result may not be definitive. Your healthcare provider will generally order additional blood and urine tests to confirm the diagnosis. Early testing gives the opportunity to start treating you baby as early as possible, minimizing the risk of further complications.


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