What is Tyrosinemia Type II? Tyrosinemia type II (TYRII) is an amino acid disorder that causes the body to have reduced production of an enzyme called hepatic tyrosine aminotransferase. Without this enzyme a protein called tyrosine builds up in the body and can cause symptoms such as pain and redness in the eye, painful skin thickening of the palms of the hand and soles of the feet, and intellectual disability. Not everyone diagnosed with TYRII will have the same symptoms and some may have more severe symptoms than others. While there are not many reported cases, available reports indicate that if a pregnant mother with TYRII is not treated it can cause growth problems or developmental delay in the unborn baby. How common is Tyrosinemia Type II? TYRII is reported to be rare, affecting less than 1/250,000 individuals. It has been reported in individuals of Italian, Ashkenazi Jewish, French, Scottish, Northern European, Japanese, and Middle Eastern ancestry. The diagnosis may be most common in individuals of Arab or Mediterranean ancestry, based on documented case reports. How is Tyrosinemia Type II treated? A low protein diet and restricting food sources of tyrosine and phenylalanine (such as artificial sweeteners) can improve symptoms associated with TYRII for some affected individuals. Beginning treatment early in life appears to reduce the severity of mental impairment, as well as the eye and skin symptoms for some individuals. There are special supplements and foods for babies and adults with TYRII. Additional medications such as oral retinoids may be useful in the treatment of the skin abnormalities. What is the prognosis for a person with Tyrosinemia Type II? The symptoms of an individual affected with TYRII tend to progress and persist unless the dietary restrictions are implemented. Many affected individuals see improvement in the eye and skin symptoms after removing tyrosine and phenylalanine from the diet. Infants who are diagnosed with TYRII very early and who start treatment right away can usually have a healthy and normal life. About half of individuals with TYRII have some sort of intellectual disability, but early treatment may reduce this risk. Other names fortyrosinemia type II Keratosis palmoplantaris with corneal dystrophy Oregon type tyrosinemia Richner-Hanhart syndrome TAT Deficiency Tyrosine aminotransferase deficiency Tyrosine transaminase deficiency Tyrosinosis, oculocutaneous type References Cerone et al, 2002, J. Inherit. Metab. Dis. 25: 317-318, PMID: 12227462 Huhn, 1998 [II. Hum Genet. 102:305–313] PMID: 9544843 Macsai et al, 2001, Am J Ophthalmol. Oct;132(4):522-7, PMID: 11589874 Natt et al., 1992, [PNAS, Vol 89 (19):9297-301, PMID:1357662] Online Mendelian Inheritance in Man, OMIM [276600], 2016, http://www.omim.org/276600 Orphanet: ORPHA28378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=28378 Pastemack, 2009, Br J Dermatol. Mar;160(3):704-6, PMID: 18945316 Rabinowitz, 1995 [J Pediatr.126(2):266-9] PMID: 7844676 Romdhane(2012)Orphanet J Rare Dis.10 1186/1750-1172-7-52, PMID: 22908982