Concepedia

Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.

Peter M. Jones, Rebecca Quinn, Paul V. Fennessey, Susan Tjoa, Stephen I. Goodman, Stephany Fiore, Alberto Burlina, Piero Rinaldo, Richard L. Boriack, Malcolm J. Bennett

PubMed · 2000 · 47 citations · 15 references

Abstract

Measuring blood concentrations of the 3-OH-FAs with this assay may be a valuable tool for helping to rapidly identify deficiencies in LCHAD and SCHAD and may also provide useful information about the status of the FAO pathway.

References

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Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

Arnold W. Strauss, C K Powell, Daniel E. Hale et al. · Proceedings of the National Academy of Sciences · 1995 · 168 citations · Full text

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers et al. · Journal of Clinical Investigation · 1996 · 163 citations · Full text

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