Biochemical investigation of histidinaemia

Biochemical investigation of histidinaemia

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 o...

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Veröffentlicht in:Journal of clinical pathology 1964-11, Vol.17 (6), p.671-675
Hauptverfasser: Holton, J. B., Lewis, F. J. W., Moore, G. R.
Format: Artikel
Sprache:eng
Schlagworte:
Amino Acid Metabolism, Inborn Errors
Amino Acids
Blood Chemical Analysis
Child
Chromatography
Clinical Laboratory Techniques
Electrophoresis
FIGLU Test
Genetics, Medical
Histidine
Histidine Ammonia-Lyase
Humans
Infant
Infection
Intellectual Disability
Old Medline
Seizures
Skin
Urine
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Zusammenfassung: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.
ISSN:0021-9746
1472-4146
DOI:10.1136/jcp.17.6.671