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tyrosinaemia (medicine)


tyrosinaemia


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