Prenatal diagnosis of medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Bennett, Michael J.; Allison, F.; Lowther, G W; Gray, R. G. F.; Johnston, D I; Fitzsimmons, J S; Manning, N. J.; Pollitt, R. J.

doi:10.1002/pd.1970070210

Cited by 22 publications

(10 citation statements)

References 12 publications

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“…Prenatal diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has been available since the characterization of the enzyme defect (Kolvraa et al, 1982). A single case has been reported in the literature (Bennett et al, 1987). This prompted a debate about the ethics of abortion of a fetus with a disease which seems to be easily treatable by frequent meals and for which no death has been reported in diagnosed cases.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

et al. 1995

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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

et al. 1995

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“…A similar non-specific assay, the release of 14CO 2 from [1-14C]octanoate was used for prenatal diagnosis of a disorder of medium-chain fatty acid oxidation by Bennett et al (1987c). This disorder was believed at the time to be medium-chain acyl-CoA dehydrogenase deficiency as in fibroblasts the defect in CO2 release was confined to the oxidation of fatty acids of medium chain-length.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Disorders of mitochondrial β‐oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

Pollitt

1989

J of Inher Metab Disea

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There are still many problems with the diagnosis and classification of inherited disorders of mitochondrial beta-oxidation. At present only the acyl-CoA dehydrogenase step of the beta-oxidation spiral has been explored in any detail and a large number of patients have disorders that cannot be properly characterized. beta-Oxidation defects may present in a wide variety of ways, the most dramatic being acute encephalopathy with hepatic involvement (atypical Reye's syndrome) or 'sudden' death. Investigations may include urinary and plasma organic acids, metabolic stress tests and assays of overall metabolic pathways or of specific enzymes in cultured fibroblasts, lymphocytes, or other material. Early postnatal diagnosis presents particular difficulties but in medium-chain acyl-CoA dehydrogenase deficiency the diagnosis may be apparent from careful examination of urine. There is as yet little general experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium-chain acyl-CoA dehydrogenase deficiency and of an incompletely characterized defect of medium-chain fatty acid oxidation have been performed.

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“…Tissue diagnosis may be confirmed either by direct enzyme measurement or by the demonstration of a reduced capacity of cells (cultured skin fibroblasts, leucocytes, or liver) to oxidize medium-chain fatty acids, in particular octanoate. We have previously reported a positive prenatal diagnosis of this condition after demonstrating a reduced capacity of amniotic fluid (AF) cells to oxidize [l -'4C]octanoate (Bennett et al, 1987a). The effect of AF cell type (which is unpredictable) and of passage number in these disorders is unknown but is likely to influence the octanoate oxidation rate.…”

Section: Introductionmentioning

confidence: 99%

The oxidation of octanoic acid by cultured amniotic fluid cells: The effect of cell type and passage number

1988

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We have measured the rate of oxidation of [1(-14)C]octanoate in cultured amniotic fluid (AF) cells at various passages and in AF cell lines with different clonal morphology. It is possible that both the passage number and the cell type may influence the outcome of prenatal diagnosis of fatty acid oxidation defects using this technique. We found that there was no significant difference between the three major AF cell types (epithelial, large epithelial, and fibroblast) when analysed at identical passage number but there was a significant reduction in octanoate oxidation in all cell types with increasing passage. For reliable prenatal diagnosis, cell lines of similar low passage number should be used.

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Prenatal diagnosis of medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Cited by 22 publications

References 12 publications

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Disorders of mitochondrial β‐oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

The oxidation of octanoic acid by cultured amniotic fluid cells: The effect of cell type and passage number

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