Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.

TitleCombined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
Publication TypeJournal Article
Year of Publication2006
AuthorsHubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H
JournalMolecular genetics and metabolism
Volume89
Issue1-2
Pagination185-7
Date Published2006 Sep-Oct
Abstract

Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess of lysophosphatidyl choline containing hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls. There was no overlap between normal subjects versus affected subjects.

Alternate JournalMol. Genet. Metab.