Familial tyrosinaemia with eye and skin lesions. Presentation of two cases

Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for s...

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Published inOphthalmologica (Basel) Vol. 175; no. 1; pp. 5 - 9
Main Authors Bardelli, A M, Borgogni, P, Farnetani, M A, Fois, A, Frezzotti, R, Mattei, R, Molinelli, M, Sargentini, I
Format Journal Article
LanguageEnglish
Published Switzerland 1977
Subjects
Adult
Amino Acid Metabolism, Inborn Errors - diet therapy
Amino Acid Metabolism, Inborn Errors - genetics
Child, Preschool
Corneal Diseases - diet therapy
Corneal Diseases - genetics
Female
Humans
Infant
Keratoderma, Palmoplantar - diet therapy
Keratoderma, Palmoplantar - genetics
Male
Syndrome
Tyrosine - blood
Tyrosine Transaminase
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Summary:Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0030-3755
DOI:10.1159/000308631