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What causes HT-1 and How Is It Diagnosed?

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

In the United States, HT-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 professional 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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