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Biochemical Studies in a patient with “Tyrosinosis” **
Author(s) -
Louis W. J.,
Pitt D. D.,
Davies H.
Publication year - 1974
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1974.tb03190.x
Subject(s) - tyrosinemia , medicine , hepatic dysfunction , pediatrics , mentally retarded , disease , pathology , biochemistry , developmental psychology , biology , psychology , tyrosine
Summary: An adult mentally retarded patient with tyrosinaemia and tyrosyluria is described. The absence of renal and hepatic disease does not allow him to be classified as a case of hereditary tyrosinaemia. Clinically and biochemically he closely resembles Medes' unique case 2 of “tyrosinosis” and the case re‐ported by Wadman et al . 10 , and in some respects the case reported by Kennaway and Buist 12 . It is suggested that all four patients may have a common enzyme defect and are clinically distinct from hereditary tyrosinaemia in which multiple hereditary defects probably occur.