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

Walter C Hubbard; Ann B Moser; Silvia Tortorelli; Anita Liu; David Jones; Hugo Moser

doi:10.1016/j.ymgme.2006.05.001

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

Mol Genet Metab. 2006 Sep-Oct;89(1-2):185-7. doi: 10.1016/j.ymgme.2006.05.001. Epub 2006 Jul 7.

Authors

Walter C Hubbard¹, Ann B Moser, Silvia Tortorelli, Anita Liu, David Jones, Hugo Moser

Affiliation

¹ Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA. whubbard@jhmi.edu <whubbard@jhmi.edu>

PMID: 16828324
DOI: 10.1016/j.ymgme.2006.05.001

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.

Publication types

Evaluation Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adrenoleukodystrophy / diagnosis*
Child, Preschool
Chromatography, Liquid / methods*
Fatty Acids / blood*
Genetic Testing / methods*
Humans
Infant
Lysophosphatidylcholines / blood*
Male
Mass Spectrometry / methods
Peroxisomal Disorders / diagnosis*

Substances

Fatty Acids
Lysophosphatidylcholines
hexacosanoic acid

Grants and funding

1 S10 RR16798/RR/NCRR NIH HHS/United States