PEDIATRICS Vol. 48 No. 3 September 1971, pp. 393-400
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TYROSINOSIS: A PATIENT WITHOUT LIVER OR RENAL DISEASE

James L. Holston Jr. M.P.H.1, Harvey L. Levy M.D.1, Gary A. Tomlin B.A.1, Ruby J. Atkins B.A.1, T. H. Patton M.D.1, and Thomas S. Hosty Ph.D.1

1 Division of Metabolic Diseases, Bureau of Laboratories, Alabama Department of Public Health, Montgomery, Alabama; the Department of Neurology, Harvard Medical School and the Joseph P. Kennedy, Jr., Laboratory and the Neurology Service, Massachusetts General Hospital, The Division of Diagnostic Laboratories, State Laboratory Institute, Massachusetts Department of Public Health; and the Partlow State School and Hospital, Tuscaloosa, Alabama

A child institutionalized because of severe mental retardation was found to have biochemical evidence of tyrosinosis. He has had no evidence of hepatic disease. In addition, he has had no hyperaminoaciduria, glycosuria, or rickets. Plasma tyrosine concentrations while he was on a regular diet ranged from 16.0 to 25.6 mg per 100 ml. Urinary excretion of tyrosine and tyrosine metabolites, including p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenyl-acetic acid, were markedly increased. This patient appears to have a primary defect in tyrosine metabolism and represents individuals with persisting tyrosinemia and tyrosyluria in whom no hepatorenal disease is found.

Submitted on November 20, 1970
Accepted on April 5, 1971