Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
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.
Hubbard
Walter C
WC
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>
Moser
Ann B
AB
Tortorelli
Silvia
S
Liu
Anita
A
Jones
David
D
Moser
Hugo
H
D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D002675:Child, Preschool; D002853:Chromatography, Liquid / Q000379:methods*; D005227:Fatty Acids / Q000097:blood*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008244:Lysophosphatidylcholines / Q000097:blood*; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D018901:Peroxisomal Disorders / Q000175:diagnosis*
D005227:Fatty Acids; D008244:Lysophosphatidylcholines; C017364:hexacosanoic acid