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 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.
D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids; D001774:Blood Chemical Analysis; D002648:Child; D002845:Chromatography; D019411:Clinical Laboratory Techniques; D004586:Electrophoresis; D005365:FIGLU Test; D005826:Genetics, Medical; D006639:Histidine; D006638:Histidine Ammonia-Lyase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007239:Infections; D008607:Intellectual Disability; D012640:Seizures; D012867:Skin; D014556:Urine
D000596:Amino Acids; D006639:Histidine; D006638:Histidine Ammonia-Lyase
AMINO ACID METABOLISM, INBORN ERRORS; BLOOD CHEMICAL ANALYSIS; CHROMATOGRAPHY; CONVULSIONS; DIAGNOSIS, LABORATORY; ELECTROPHORESIS; FIGLU TEST; GENETICS, HUMAN; HISTIDINE; INFANT; INFECTION; MENTAL RETARDATION; URINE