Distribution of phenylketonuria in irish newborn children.
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Biomedical subjects
Publications and source records attributed to S F Cahalane.
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In the first 5 months of 1975, 12 cases of meningococcal septicaemia were seen at a children's hospital where in previous years the condition was seen only sporadically. 3 of these children were dead on admission, 5 died shortly after admission, and 4 responded to treatment. Neisseria meningitidis was recovered from cerebrospinal fluid or blood or both in all cases, and the clinical illness was characterised by fever, prostration, and cutaneous purpura of abrupt onset. There were no significant previous illnesses, no recognisable prodromata, and, bacteriology apart, no pattern of laboratory results. There was a suggestion of centre-city clustering in the home background, although 2 of the patients came from rural areas. At necropsy gross adrenal haemorrhage was found in 6 of the 8 fatal cases, and upper gastrointestinal bleeds in the 5 deaths which were not sudden.
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Mothers of children with phenylketonuria have a significantly lower miscarriage rate than a matched control population in Ireland and west Scotland. This protective effect of the gene against some factor causing foetal death would seem to constitute a heterozygote advantage which might account for the previously observed polymorphism for phenylketonuria. It is suggested that the decrease in foetal mortality is mediated by the higher concentration of phenylalanine in the heterozygous mother's blood, but that this is not a simple nutritional effect of an increased supply of an essential amino acid leading to increased protein deposition.