[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations].
A case of Richner-Hanhart syndrom with tyrosinemia is being reported. The diagnosis was suggested from clinical manifestations of this syndrom : superficial opacities of the cornea in an infant preceeding hyperkeratosis of the palms and soles and mild mental retardation. It has been confirmed by the high levels of blood tyrosine. The introduction of a diet low in tyrosine and alanine has lead to a rapid improvement and finally a complete cure of the ophthalmological and dermatological symptoms. The normal metabolism of tyrosine is recalled as well as the specific metabolic aberration responsable for this syndrom (deficiency of cytosol tyrosine amino-transferase). This case is being compared with those which have been previously reported.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy; D000818:Animals; D002675:Child, Preschool; D003318:Corneal Opacity / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology*; D007637:Keratoconjunctivitis / Q000209:etiology*; D007645:Keratoderma, Palmoplantar / Q000209:etiology*; D051381:Rats; D013577:Syndrome; D014443:Tyrosine / Q000097:blood* / Q000378:metabolism; D014444:Tyrosine Transaminase / Q000172:deficiency*; D014786:Vision Disorders / Q000209:etiology*
D014443:Tyrosine; D014444:Tyrosine Transaminase
Un cas de syndrome de Richner-Hanhart (Tyrosinose à manifestations oculaires, cutanées et mentales).