Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
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.
Rabinowitz
L G
LG
Department of Pediatrics, Medical College of Wisconsin, Milwaukee.
Williams
L R
LR
Anderson
C E
CE
Mazur
A
A
Kaplan
P
P
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D002675:Child, Preschool; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000178:diet therapy / Q000209:etiology; D008027:Light / Q000009:adverse effects*; D008297:Male; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine