Prenatal diagnosis and family studies in a case of propionicacidaemia |
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Authors: | David Gompertz Patricia A. Goodey Hazel Thom George Russell Alan W. Johnston David H. Mellor Murdoch W. MacLean Marie E. Ferguson-Smith Malcolm A. Ferguson-Smith |
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Affiliation: | Department of Medicine, Royal Postgraduate Medical School, London and Departments of Child Health, Genetics and Obstetrics, University of Aberdeen, and Department of Medical Genetics, University of Glasgow, United Kingdom |
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Abstract: | In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed retrospectively from stored plasma as the cause of the second death during the mother's next pregnancy. Amniocentesis was performed and a culture of amniotic cells was assayed for propionyl CoA carboxylase activity. The absence of any detectable propionyl CoA carboxylase activity allowed the prenatal diagnosis of propionicacidaemia to be made. Treatment with biotin and a modified aminoacid diet was started in the immediate postnatal period. Investigation of propionyl CoA carboxylase in leucocytes from the parents, siblings and other relations of the patient failed to demonstrate intermediate enzyme activities in even the parents, who were presumably heterozygotes for this condition. |
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