Literature DB >> 14227438

BIOCHEMICAL INVESTIGATION OF HISTIDINAEMIA.

J B HOLTON, F J LEWIS, G R MOORE.   

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.

Entities:  

Keywords:  AMINO ACID METABOLISM, INBORN ERRORS; BLOOD CHEMICAL ANALYSIS; CHROMATOGRAPHY; CONVULSIONS; DIAGNOSIS, LABORATORY; ELECTROPHORESIS; FIGLU TEST; GENETICS, HUMAN; HISTIDINE; INFANT; INFECTION; MENTAL RETARDATION; URINE

Mesh：

Substances：

Year:  1964        PMID： 14227438      PMCID： PMC480855          DOI： 10.1136/jcp.17.6.671

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  9 in total

1.  CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.

Authors:  B N LADU; R R HOWELL; G A JACOBY; J E SEEGMILLER; E K SOBER; V G ZANNONI; J P CANBY; L K ZIEGLER
Journal:  Pediatrics       Date:  1963-08       Impact factor: 7.124

2.  A case of histidinaemia.

Authors:  H E DAVIES; M J ROBINSON
Journal:  Arch Dis Child       Date:  1963-02       Impact factor: 3.791

3.  Determination of histidine alpha-deaminase in human stratum corneum and its absence in histidinaemia.

Authors:  V G ZANNONI; B N LA DU
Journal:  Biochem J       Date:  1963-07       Impact factor: 3.857

4.  A method for the determination of histidine in blood.

Authors:  R C BALDRIDGE; N GREENBERG
Journal:  J Lab Clin Med       Date:  1963-04

5.  Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid.

Authors:  V H AUERBACH; A M DIGEORGE; R C BALDRIDGE; C D TOURTELLOTTE; M P BRIGHAM
Journal:  J Pediatr       Date:  1962-04       Impact factor: 4.406

6.  A familial disturbance of histidine metabolism.

Authors:  H GHADIMI; M W PARTINGTON; A HUNTER
Journal:  N Engl J Med       Date:  1961-08-03       Impact factor: 91.245

7.  An enzymatic spectrophotometric method for the determination of phenylalanine in blood.

Authors:  B N LA DU; P J MICHAEL
Journal:  J Lab Clin Med       Date:  1960-03

8.  Simple paper chromatographic technique for amino-acid analysis of blood.

Authors:  K V GIRI; K KRISHNAMURTHY; T A VENKITASUBRAMANIAN
Journal:  Lancet       Date:  1952-09-20       Impact factor: 79.321

9.  Conventional voltage electrophoresis for formiminoglutamic-acid determination in folic acid deficiency.

Authors:  J KOHN; D L MOLLIN; L M ROSENBACH
Journal:  J Clin Pathol       Date:  1961-07       Impact factor: 3.411
  9 in total
  6 in total

1.  Histidinaemia in a consanguineous marriage.

Authors:  I Rostenberg; J Guïzar; I Alejandre; S Benïtez; S Armendares
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

2.  Histidinaemia: a child and his family.

Authors:  A R Cain; J B Holton
Journal:  Arch Dis Child       Date:  1968-02       Impact factor: 3.791

3.  Histidinaemia.

Authors:  J W Seakins; J B Holton
Journal:  Biochem J       Date:  1969-02       Impact factor: 3.857

4.  Detection by paper chromatography of imidazoles, including hydantoin-5-propionic acid, in urine after histidine dosage.

Authors:  J E Middleton
Journal:  J Clin Pathol       Date:  1965-09       Impact factor: 3.411

5.  Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases.

Authors:  O Thalhammer; S Scheibenreiter; M Pantlitschko
Journal:  Z Kinderheilkd       Date:  1971

6.  Further case of histidinaemia.

Authors:  G A Clarance; J K Bowman
Journal:  Br Med J       Date:  1966-04-23
  6 in total

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