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Journal List > J Clin Pathol > v.17(6); Nov 1964

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J Clin Pathol. 1964 November; 17(6): 671–675.
PMCID: PMC480855
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Biochemical investigation of histidinaemia
J. B. Holton, F. J. W. Lewis, and G. R. Moore
Department of Pathology, Southmead Hospital, Bristol
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Abstract
A 6-month-old child with a history of recurrent infections, convulsions, and retarded development had biochemical findings which were typical of histidinaemia. The enzyme histidase has been shown to be absent from the skin of the patient. The results of histidine-loading experiments in the parents of the child suggest that they may both metabolise this amino-acid abnormally. A simple method of estimating histidine in plasma and urine is described.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • AUERBACH VH, DIGEORGE AM, BALDRIDGE RC, TOURTELLOTTE CD, BRIGHAM MP. Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. J Pediatr. 1962 Apr;60:487–497. [PubMed]
  • BALDRIDGE RC, GREENBERG N. A method for the determination of histidine in blood. J Lab Clin Med. 1963 Apr;61:700–707. [PubMed]
  • DAVIES HE, ROBINSON MJ. A case of histidinaemia. Arch Dis Child. 1963 Feb;38:80–82. [PubMed]
  • GHADIMI H, PARTINGTON MW, HUNTER A. A familial disturbance of histidine metabolism. N Engl J Med. 1961 Aug 3;265:221–224. [PubMed]
  • GIRI KV, KRISHNAMURTHY K, VENKITASUBRAMANIAN TA. Simple paper chromatographic technique for amino-acid analysis of blood. Lancet. 1952 Sep 20;2(6734):562–563. [PubMed]
  • KOHN J, MOLLIN DL, ROSENBACH LM. Conventional voltage electrophoresis for formiminoglutamic-acid determination in folic acid deficiency. J Clin Pathol. 1961 Jul;14:345–350. [PubMed]
  • LADU BN, HOWELL RR, JACOBY GA, SEEGMILLER JE, SOBER EK, ZANNONI VG, CANBY JP, ZIEGLER LK. CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. Pediatrics. 1963 Aug;32:216–227. [PubMed]
  • LA DU BN, MICHAEL PJ. An enzymatic spectrophotometric method for the determination of phenylalanine in blood. J Lab Clin Med. 1960 Mar;55:491–496. [PubMed]
  • ZANNONI VG, LA DU BN. Determination of histidine alpha-deaminase in human stratum corneum and its absence in histidinaemia. Biochem J. 1963 Jul;88:160–162. [PubMed]
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