Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).
Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with consanguineous parents. The tyrosine levels in the serum and in the urine were normal in both parents, while in the offsprings the tyrosine levels were elevated 7 1/2-13 times in the serum and 3-13 times in the urine. Although the serum tyrosine levels in our cases were higher than most of the cases reported in the literature the eyes of all our patients were normal. The skin manifestations were very impressive, and varying degrees of mental retardation were present in all patients. The patients put on a low-protein diet improved considerably and have been kept symptom-free for 1 1/2 years. The possible implication of the discrepancy between the high serum levels and lack of ocular changes is discussed. Our results suggest that the Richner-Hanhart syndrome may include more than one distinct biochemical entity.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine; D002648:Child; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000652:urine; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014443:Tyrosine / Q000097:blood* / Q000652:urine
D014443:Tyrosine