PEDIATRICS Vol. 32 No. 2 August 1963, pp. 216-227
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CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA

Bert N. La Du M.D., Ph.D.1, R. Rodney Howell M.D.1, George A. Jacoby M.D.1, J. E. Seegmiller M.D.1, Eva K. Sober M.S.1, Vincent G. Zannoni Ph.D.1, John P. Canby M.C.1, and Lillian K. Ziegler M.D.1

1 National Institute of Arthritis and Metabolic Diseases, Bethesda, Maryland, and Pediatric Service, Walter Reed Army Medical Center, Washington, D.C.

Studies on two siblings with histidinemia have shown that the enzymatic defect in this metabolic disease is the absence of histidase. As a consequence, blood levels of histidine are greatly elevated, and histidine and imidazolepyruvic acid are excreted in the urine. Imidazolepyruvic acid in the urine of these patients gives a green color with ferric chloride, and the disease may be confused with phenylketonuria. Patients with histidinemia lack urocanic acid in the skin and sweat. Both siblings with histidinemia have speech defects but normal intelligence. The possible relationship between the defect in speech and the metabolic disease has been discussed. The mode of inheritance of this disease is not clearly established, but it may be a Mendelian recessive.

Submitted on September 10, 1962
Accepted on January 3, 1963




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S. W. Brusilow and K. Ikai
Urocanic Acid in Sweat: An Artifact of Elution from the Epidermis
Science, June 14, 1968; 160(3833): 1257 - 1258.
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