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Tyrosinemias

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Atlas of Genetic Diagnosis and Counseling
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Abstract

The genetic tyrosinemias, autosomal recessive disorders, are characterized by the accumulation of tyrosine in body fluids and tissues. There are three types of tyrosinemias: Types I, II, and III. Type I has a prevalence of about 1 in 100,000 newborns in the general population. Type III is extremely rare (Fig. 1).

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References

  • Danks, D. M., Tippett, P., & Rogers, J. (1975). A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis. Acta Paediatrica Scandinavica, 64, 209–221.

    Article  CAS  PubMed  Google Scholar 

  • De Laet, C., Dionisi-Vici, C., Leonard, J. V., et al. (2013). Recommendations for the management of tyrosinemia type 1. Orphanet Journal of Rare Diseases, 8, 8–16.

    Article  PubMed  PubMed Central  Google Scholar 

  • Goldsmith, L. A., Kang, E., Bienfang, D. C., et al. (1973). Tyrosinemia with plantar and palmar keratosis and keratitis. Journal of Pediatrics, 83, 798–805.

    Article  CAS  PubMed  Google Scholar 

  • Huhn, R., Stoermer, H., Klingele, B., et al. (1998). Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia Type II. Human Genetics, 102, 305–313.

    Article  CAS  PubMed  Google Scholar 

  • King, L. S., Trahms, C., & Scott, C. R. (2014). Tyrosinemia type I. GeneReviews, 17, 2014.

    Google Scholar 

  • Lindblad, B., Lindstedt, S., & Steen, G. (1977). On the enzymic defects in hereditary tyrosinemia. Proceedings of the National Academy of Sciences of the United States of America, 74, 4641–4645.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Macsai, M. S., Schwartz, T. L., Hinkle, D., et al. (2001). Tyrosinemia type II: Nine cases of ocular signs and symptoms. American Journal of Ophthalmology, 132, 522–527.

    Article  CAS  PubMed  Google Scholar 

  • Mitchell, G. A., Grompe, M., Lambert, M., & Tanguay, R. M. (2001). Hypertyrosinemia. In C. R. Scriver, A. Beaudet, W. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease (pp. 1777–1805). New York: McGraw-Hill.

    Google Scholar 

  • Rafati, M., Mohamadhashem, F., Hoseini, A., et al. (2016). Prenatal diagnosis of tyrosinemia type 1 using next generation sequencing. Fetal and Pediatric Pathology, 35, 282–285.

    Article  CAS  PubMed  Google Scholar 

  • Rehak, A., Selim, M. M., & Yadav, G. (1981). Richner–Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement). British Journal of Dermatology, 104, 469–475.

    Article  CAS  PubMed  Google Scholar 

  • Roth, K. S., Carter, B. E., & Higgins, E. S. (1991). Succinylacetone effects on renal tubular phosphate metabolism: A model for experimental renal Fanconi syndrome. Proceedings of the Society for Experimental Biology and Medicine, 196, 428–431.

    Article  CAS  PubMed  Google Scholar 

  • Scott, C. R. (2006). The genetic tyrosinemias. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 142C, 121–126.

    Article  CAS  Google Scholar 

  • Tomoeda, K., Awata, H., Matsuura, T., et al. (2000). Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Molecular Genetics and Metabolism, 71, 506–510.

    Article  CAS  PubMed  Google Scholar 

  • van Spronsen, F. J., Thomasse, Y., Smit, G. P., et al. (1994). Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment. Hepatology, 20, 1187–1191.

    Article  PubMed  Google Scholar 

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Chen, H. (2017). Tyrosinemias. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_279

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_279

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

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