Diagnosing inborn errors of lipid metabolism with proton NMR spectroscopy

Posted by & filed under Part 12: LIPIDS.

In this publication, NMR is used to diagnose or follow patients with 4 different inborn errors of lipid metabolism:
Smith-Lemli-Opitz syndrome
Cerebrotendinous Xanthomatosis
Sitosterolemia
Refsum disease
This technique might have a widespread clinical use in the future, given its advantages (authetic standards often unnecessary, almost unequivocal lipid identification, and easy sample preparation).

Clin Chem. 2006 Jul;52(7):1395-405. Epub 2006 May 18.

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic
resonance spectroscopy.

Oostendorp M, Engelke UF, Willemsen MA, Wevers RA.
For more information on inherited disorders of lipid metabolism, see part 12 of OMMBID.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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