Biochemical investigation of histidinaemia

Abstract

SYNOPSIS 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.In 1961 Ghadimi, Partington, and Hunter described an inherited disorder of histidine metabolism. They found two sisters who had histidinaemia, with an increased excretion of histidine and other imidazole compounds. Similar abnormalities have now been described in four other children

Further Case of Histidinaemia

“…Initially, cases were reported of patients who were mentally normal but had a speech defect (Auerbach et al, 1962;La Du et al, 1963a, 1963bWoolf, 1965). Subsequently the cases of severely physically and mentally handicapped patients who suffered from intercurrent infections and convulsions were reported (Davies and Robinson, 1963 ;Holton et al, 1964). The present report concerns an older child who was * Paediatric Registrar, Plymouth General Hospital.…”

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

“…These normally minor metabolic products have been shown by a number of authors (see Holton, Lewis, and Moore, 1964) to be excreted in excess by patients lacking in histidase, when conversion of histidine to urocanic acid is blocked.…”

Histidinaemia in a consanguineous marriage

“…An interesting finding is that normal or heterozygous females metabolize histidine at a slower rate than normal or heterozygous males (Ghadimi et al, 1962;La Du et al, 1963;Holton, Lewis, and Moore, 1964;Cain and Holton, 1968;Rosenblatt, Mohyuddin, and Scriver, 1970). The parents of family 2 in Neville et al's study (1972) are an exception.…”