Tyrosinemia type 1
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At the time the article was created Subhan Iqbal had no recorded disclosures.View Subhan Iqbal's current disclosures
At the time the article was last revised Daniel J Bell had no recorded disclosures.View Daniel J Bell's current disclosures
Tyrosinemia type 1 is an autosomal recessive disorder of metabolic origin. Progressive renal tubular defects and hepatocellular carcinoma are the primary manifestations.
More common in Turkey, India and Europe.
Presentation is typically in the first few months of life with:
- hepatic failure
- hepatocellular carcinoma
- neural crisis
- renal dysfunction
- developmental delay
Hereditary tyrosinemia type I is caused by a deficiency of fumarylacetoacetate. High serum succinylacetone and tyrosine levels are diagnostic, with serum succinylacetone levels being more reliable.
Treatment and prognosis
Treatment options include the early use of nitisinone, and a diet of low protein, tyrosine and phenylalanine. Early intervention decreases the chance of malignancy, as well as prolonging survival. Liver transplant is reserved for patients with poor response to nitisinone therapy.
- 1. EA Kvittingen Scandinavian journal of clinical and laboratory investigation. Supplementum 184, 27-34, 1986 Hereditary tyrosinemia type I--an overview.
- 2. Das AM. Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). (2017) The application of clinical genetics. 10: 43-48. doi:10.2147/TACG.S113310 - Pubmed
- 3. 2.Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. (2014) Orphanet journal of rare diseases. 9: 107. doi:10.1186/s13023-014-0107-7 - Pubmed