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When an Tyrosinemia Type 1 Diagnosis is New

If your baby or child is newly diagnosed with Tyrosinemia Type 1 (HT-1), you probably received a lot of information at once. Even so, a rare genetic diagnosis like this takes time to figure out, especially just what Tyrosinemia Type 1 means for your child and your family now and over the long term.

Let’s start at the beginning – what is Tyrosinemia Type 1 and where does it come from?

What is Tyrosinemia Type 1?

When a person is born with tyrosinemia type 1 their body is missing the enzymes to break down the amino acid tyrosine in food. Without this enzyme, a dangerous buildup of toxic substances in the body can occur. This in turn can lead to serious liver and kidney problems, making early diagnosis and management essential. Babies born with tyrosinemia type 1 require a special diet and medication to control the lifelong disorder.

Please contact NITYR Patient Liaison Support for more information:


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