1. Histidinemia
- Author
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Tourtellotte Cd, Baldridge Rc, Victor H. Auerbach, Brigham Mp, and Angelo M. DiGeorge
- Subjects
chemistry.chemical_classification ,Imidazolepyruvic acid ,business.industry ,Phenylpyruvic acid ,Urine ,Histidinemia ,medicine.disease ,Urocanic acid ,chemistry.chemical_compound ,Enzyme ,chemistry ,Biochemistry ,Formiminoglutamic acid ,Pediatrics, Perinatology and Child Health ,Medicine ,business ,Histidine - Abstract
Summary A case of histidinemia is described in which the biochemical abnormality can be attributed to a deficiency of the enzyme histidase. As a result of this deficiency, plasma and urinary levels of histidine are markedly elevated. Imidazolepyruvic, imidazolelactic, and imidazoleacetic acids are excreted in the urine in excessive amounts. The presence of imidazolepyruvic acid in the urine is responsible for a positive test with ferric chloride similar to that due to phenylpyruvic acid found in the urine of patients with phenylketonuria. The possibility of a deficiency of urocanase was ruled out by the demonstration of considerable amounts of formiminoglutamic acid in the urine of the patient following administration of urocanic acid.
- Published
- 1962
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