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  • Title: Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
    Author: Rabinowitz LG, Williams LR, Anderson CE, Mazur A, Kaplan P.
    Journal: J Pediatr; 1995 Feb; 126(2):266-9. PubMed ID: 7844676.
    Abstract:
    Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.
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