Tyrosinemia Type II

Overview

What is Tyrosinemia type II?

Tyrosinemia type II is a genetic disease that happens when a person’s body does not have the enzyme tyrosine aminotransferase (TAT). This enzyme helps break down tyrosine. When this enzyme is absent, tyrosine and some of its compounds buildup in the body. Tyrosine is one of the 22 amnio acids that are used by cells to build proteins. The presence of tyrosine in high levels can lead to a variety of health complications.

The main symptoms of tyrosinemia type II include thick, painful skin on the hands and feet, eyes that are sensitive to light, painful, and red with excessive tearing and intellectual disability.

References
  • https://ghr.nlm.nih.gov/condition/typosinemia
  • Macsai MS et al, Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Opthalmol. 2001 Oct:132(4)522-7
  • 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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Are there other names for Tyrosinemia Type II?

How common is Tyrosinemia Type II?

What is the usual abbreviation for Tyrosinemia Type II?

Are there other names for Tyrosinemia Type II?

Other names for Tyrosinemia Type II include:

  • TYR II
  • Hypertyrosinemia type II
  • Keratosis palmoplantaris - corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Richner-Hanhart syndrome
  • Tyrosinemia due to TAT deficiency
  • Tyrosinemia due to tyrosine aminotransferase deficiency
  • Tyrosine aminotransferase deficiency
  • Oregon type tyrosinemia
References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Macsai MS et al, Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Opthalmol. 2001 Oct:132(4)522-7
How common is Tyrosinemia Type II?

Tyrosinemia Type II occurs in approximately 1 in 250,000 live births.

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • 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
What is the usual abbreviation for Tyrosinemia Type II?

The usual abbreviations for Tyrosinemia Type II are TYRII and HTII (for hereditary tyrosinemia type II)

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Macsai MS et al, Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Opthalmol. 2001 Oct:132(4)522-7

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