{"id":27032,"date":"2024-05-22T16:15:18","date_gmt":"2024-05-22T14:15:18","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=lexikon&p=27032"},"modified":"2025-08-06T12:04:04","modified_gmt":"2025-08-06T10:04:04","slug":"tyrosinemia-type-1","status":"publish","type":"lexikon","link":"https:\/\/www.krebs-praedisposition.de\/en\/lexikon\/tyrosinemia-type-1\/","title":{"rendered":"Tyrosinemia Type 1"},"content":{"rendered":"
\"Tyrosinemia Type 1\" \u2013\u00a0What Is It?<\/h2><\/div>
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Tyrosinemia type I is a metabolic disease caused by pathogenic variant<\/span>s, i.e., genetic changes in the FAH <\/em>gene. If left untreated, it usually leads to acute liver failure, impaired kidney function with growth disorders and rickets (a disease of the growing bones caused by vitamin D deficiency), as well as neurological crises within the first year of life. Without adequate treatment, the disease is fatal within the first ten years of life. However, with treatment with nitisinone and adherence to a diet low in tyrosine, the survival rate is over 90%.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
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Tyrosinemia Type 1 \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>