Biomedical subjects
Publications and source records attributed to D H Pullon.
A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.
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Cystathionine beta synthase deficiency homocystinuria is a heritable disorder most common in those of Irish descent. Therapy may prevent intellectual deficiency and dislocation of the ocular lenses. A female with this condition treated from the neonatal period to late adolescence is reported, including the use of betaine and antithrombotic drugs in management.
Two brothers were found to have athetoid cerebral palsy, mental and growth retardation and evidence of self mutilation. One had passed a renal calculus and both had high serum uric acid levels. The diagnosis of Lesch-Nyhan syndrome was confirmed by the finding of low levels of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes and by autoradiography of fibriblasts. The mother, maternal grandmother, a female sibling and a maternal aunt were identified as carriers of the X-linked mutation which was responsible for the enzyme deficiency in the two male siblings.
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A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.
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The presentation of one individual with HBAg-positive hepatitis in a semi-closed community led to the testing of 262 intellectually-handicapped persons and staff-members and to the detection of 12 others who were HBAg-positive. Only the presenting case and one other became unwell with hepatitis. Three other HBAg-positive individuals became negative within three months, none showing clinical or biochemical evidence of hepatitis. The remaining eight persons were still HBAg-positive six months later. Four of these had biochemical abnormalities suggesting they had suffered anicteric hepatitis while the remainder, three of whom had Down's syndrome, had no such changes and are therefore considered to be carriers of the infective agent.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.