TYROSINOSIS is an inherited metabolic disorder characterized by cirrhosis of the liver, vitamin D-resistant rickets, multiple renal tubular abnormalities, and abnormal l-tyrosine metabolism.1,2 Urinary excretion of l-tyrosine and its metabolites is increased and the concentration of plasma l-tyrosine is abnormally high, whereas the concentrations of other plasma amino acids are usually normal.1,2 These findings reflect a block in l-tyrosine metabolism involving p-hydroxyphenylpyruvic acid (pHPPA) oxidase.1-5
The clinical course of a patient with tyrosinosis is described in the present report. Biochemical, enzymatic, and histological findings are given together with the results of dietary management.
Report of a Case
History.—A 10-month-old white girl (born June 10, 1963), the only child of Hungarian parents, was admitted to the Clinical Research Center, Children's Hospital of Los Angeles in April 1964 because of suspected glycogen-storage disease.At birth she weighed 2,550 gm (5 lb 12 oz)
KOGUT MD, SHAW KN, DONNELL GN. Tyrosinosis. Am J Dis Child. 1967;113(1):47-53. doi:10.1001/archpedi.1967.02090160097009