| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8344035 | Molecular Genetics and Metabolism | 2013 | 6 Pages |
Abstract
Relying on primary acylcarnitine markers, CPT-1 deficiency can be missed when analysis is performed in plasma, whereas CPT-2 deficiency can be missed when analysis is performed in DBS. Ratios of the primary markers to other acylcarnitines restore diagnostic recognition completely for CPT-1 and CPT-2 in plasma, while CPT-2 can still be missed in DBS.
Keywords
MMADBSSVLCADGA-ILCHADMCADCPT-1Long-chain 3-hydroxyacyl-coA dehydrogenaseβ-ketothiolaseAcylcarnitinesFatty acid oxidation disorderspropionic acidemiaMethylmalonic acidemiaOrganic aciduriasIEMInborn error of metabolismVery-long-chain acyl-CoA dehydrogenaseMedium-chain acyl-CoA dehydrogenasedried blood spotsRatiosDried blood spotcarnitine palmitoyltransferase 2Carnitine palmitoyltransferase 1
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Authors
Monique G.M. de Sain-van der Velden, Eugene F. Diekman, Judith J. Jans, Maria van der Ham, Berthil H.C.M.T. Prinsen, Gepke Visser, Nanda M. Verhoeven-Duif,