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

Allison, F.; Barnes, I.; Bennett, Michael J.

doi:10.1002/pd.1970080509

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…There are large interassay variations in the observed rate of COz release and an adequate number of controls must be run with each batch to establish a normal range. Fortunately activity does not vary appreciably with AF cell type (Allison et al, 1986).…”

Section: Discussionmentioning

confidence: 88%

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

et al. 1987

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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.

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Section: Discussionmentioning

confidence: 88%

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

et al. 1987

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“…For example, incubation of MCAD-affected amniocytes with labelled octanoate has been reported with rates of 50 per cent residual flux (Pollitt et al, 1994). In addition, oxidation rates may be reduced with multiple cell line passages even when normal (Allison et aL, 1988).…”

Section: Discussionmentioning

confidence: 97%

Prenatal Diagnosis of Mitochondrial Fatty Acid Oxidation Defects

et al. 1996

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“…14CO2-release assays or similar non-specific methods may also be used but these often show high residual activity in medium-chain acyl-CoA dehydrogenase deficiency and there is a degree of overlap between the normal and affected ranges. The activities shown in the CO2-release assay using [1-14C]octanoate are similar in the epithelial and fibroblastoid types of cultured amniotic fluid cells (Allison et al, 1988b).…”

Section: Prenatal Diagnosismentioning

confidence: 97%

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

Cited by 5 publications

References 8 publications

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

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

Prenatal Diagnosis of Mitochondrial Fatty Acid Oxidation Defects

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

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