Hereditary Tyrosinemia Type 1 - Symptoms, Causes, Treatment

  • 3 months ago
Hereditary Tyrosinemia Type 1 (HT1) is a rare genetic disorder that affects how the body breaks down the amino acid tyrosine. This condition is caused by a mutation in the FAH gene, leading to a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). Without this enzyme, toxic by-products build up in the body, causing serious health problems.

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