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Medical Definition of Hypertyrosinaemia
1. A disorder consisting of elevated blood concentrations of tyrosine, enhanced urinary excretion of tyrosine and tyrosyl compounds, hepatosplenomegaly, nodular cirrhosis of the liver, multiple renal tubular reabsorptive defects, and vitamin D-resistant rickets; autosomal recessive inheritance. Synonym: hypertyrosinaemia. Origin: tyrosine + G. Haima, blood (05 Mar 2000)