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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/tyrosinemia-type-ii/overview/17154 • DATE UPDATED: 2016-08-16

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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