Rabinowitz L G, Williams L R, Anderson C E, Mazur A, Kaplan P
Department of Pediatrics, Medical College of Wisconsin, Milwaukee.
J Pediatr. 1995 Feb;126(2):266-9. doi: 10.1016/s0022-3476(95)70558-9.
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.
