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Article
January 1967

Tyrosinosis

Author Affiliations

LOS ANGELES
From the Department of Pediatrics, University of Southern California School of Medicine (Dr. Donnell), and the Division of Metabolism (Drs. Donnell and Kogut) and Clinical Research Center (Drs. Kogut and Shaw), Children's Hospital of Los Angeles.

Am J Dis Child. 1967;113(1):47-53. doi:10.1001/archpedi.1967.02090160097009
Abstract

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)

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