Bilateral keratopathy and tyrosinosis.
A case of tyrosinosis due to lack of soluble tyrosine aminotransferase is described. The first clinical sign of this disorder may be bilateral keratopathy. Treatment is diet with restriction of phenylalanine and tyrosine. The disorder is rare and must be differentiated from other conditions of tyrosinosis.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D003316:Corneal Diseases / Q000201:enzymology*; D003318:Corneal Opacity / Q000201:enzymology; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014444:Tyrosine Transaminase / Q000172:deficiency*
D014444:Tyrosine Transaminase