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Histidinemia in Identical Twins with Speech Defect.

Maj. Billy F. Andrews; Maj. Charles R. Angel; and 1st Lt. William M. Walter Jr.
Ann Intern Med. 1964;60(4):718. doi:10.7326/0003-4819-60-4-718_2
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As a result of mass testing for phenylketonuria in infants and retarded children with the urinary ferric chloride test, a new entity, histidinemia, was described by Ghadimi and associates in 1961. Auerbach and associates, after histidine and urocanic acid loading studies in a patient and the determination of urinary metabolites, proposed that the enzymatic defect could be in liver histidase. In the absence of conversion of histidine to urocanic acid, excessive amounts of histidine are transaminated to imidazolepyruvic acid, which is responsible for the green color reaction in the urinary ferric chloride test. La Du demonstrated absence of skin histidase


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