Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy; D000596:Amino Acids / Q000097:blood; D002675:Child, Preschool; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007223:Infant; D008607:Intellectual Disability / Q000097:blood; D007634:Keratitis / Q000097:blood / Q000178:diet therapy; D007645:Keratoderma, Palmoplantar / Q000178:diet therapy / Q000209:etiology; D008297:Male; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*
D000596:Amino Acids; D006880:Hydroxy Acids; D014443:Tyrosine