Tyrosinosis. A study of 6 cases.

Abstract

The syndrome to be described includes liver cirrhosis, renal tubular defects with vitamin Dresistant rickets, and abnormal tyrosine metabolism with raised levels of the serum tyrosine and an increased excretion of tyrosine and its metabolites in the urine (tyrosyluria). The syndrome has been described under several headings, reflecting the many unsolved problems of aetiology and patho- genesis. The term tyrosinosis was first used by Medes (1932), and though the main symptom in her case was muscular hypotonia, many of the biochemical features were in keeping with the cases described here. The term tyrosinosis was accepted at an International Symposium on Tyrosinosis held in Oslo in June 1965 (Gjessing and Halvorsen, 1966).