Tyrosinemia Type II

Causes

What gene change causes Tyrosinemia Type II?

Changes in the TAT gene cause Tyrosinemia Type II. This gene provides instructions for making the enzyme tyrosine aminotransferase that is required for the breakdown of tyrosine. Tyrosine is an amnio acid that the body uses to produce proteins. This is the only gene that is known to cause Tyrosinemia Type II.

References
  • Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D. Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol. 2001;132:522–7.
  • http://www.ncbi.nlm.nih.gov/pubmed/11589874
  • Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.Iskeleli G1, Bilgeç MD, Arici C, Atalay E, O?reden T, Aydin A
  • Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 2006;142:121-6.
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What happens because of the TAT gene change?

Does anything make Tyrosinemia Type II worse?

Are changes in the TAT gene a predisposition or cause?

What happens because of the TAT gene change?

When there is a change in the TAT gene, a person becomes deficient of the enzyme tyrosine aminotransferase. This enzyme is responsible for the breakdown of tyrosine, an amino acid the body uses to make proteins. When tyrosine aminotransferase is absent, a toxic buildup of tyrosine occurs in the body.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
  • Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.Iskeleli G1, Bilgeç MD, Arici C, Atalay E, O?reden T, Aydin A
  • Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D. Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol. 2001;132:522–7 http://www.ncbi.nlm.nih.gov/pubmed/11589874
  • Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 2006;142:121-6.
Does anything make Tyrosinemia Type II worse?

A high protein diet makes Tyrosinemia Type II worse. Protein that we eat (like meats and beans) contains phenylalanine. Phenylalanine is another amino acid that is used by the body. Phenylalanine is broken down into tyrosine. Therefore, when a person with Tyrosinemia Type II eats protein, they will have high levels of phenylalanine. High levels of phenylalanine cause high levels of tyrosine, and people with Tyrosinemia Type II cannot break down tyrosine. Too much tyrosine causes the health problems associated with this condition.

References
  • Natt, E et al, Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II; PNAS Vol 89, pp 9297-9301, Oct 1992.
  • Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D. Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol. 2001;132:522–7.
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 2006;142:121-6.
Are changes in the TAT gene a predisposition or cause?

Changes in the TAT gene cause Tyrosinemia Type II.

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.

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