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Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency |
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| Authors: | Dr. M. J. Bennett F. Allison G. W. Lowther R. G. F. Gray D. I. Johnston J. S. Fitzsimmons N. J. Manning R. J. Pollitt |
| Affiliation: | 1. Departments of Chemical Pathology and Centre for Human Genetics, Children's Hospital, Western Bank, Sheffield S10 2TH, U.K.;2. Sub-department of Medical Genetics, University of Sheffield, S10 5DN, U.K.;3. Department of Paediatrics, University Hospital, Queen's Medical Centre, Nottingham, NG7 2UH, U.K.;4. Department of Clinical Genetics, City Hospital, Nottingham, NG5 1PB. U.K.;5. Regional Neonatal Screening Laboratory, Middlewood Hospital, Sheffield. S6 1TP, U.K. |
| Abstract: | A fatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non-ketotic dicarboxylic aciduria. Cultured skin fibroblasts released 14CO2 from [1–14C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis. |
| Keywords: | Dicarboxylic acids Medium-chain acyl-CoA dehydrogenase Octanoic acid Gas chromatography-mass spectrometry |