Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Christiane Theda, Katy Gibbons, Todd E. DeFor, Pamela K. Donohue, W. Christopher Golden, Antonie D. Kline, Fizza Gulamali-Majid, Susan R. Panny, Walter C. Hubbard, Richard O. Jones, Anita K. Liu, Ann B. Moser, Gerald V. Raymond

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C26:0 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible.

Original languageEnglish (US)
Pages (from-to)55-57
Number of pages3
JournalMolecular Genetics and Metabolism
Volume111
Issue number1
DOIs
StatePublished - 2014

Bibliographical note

Funding Information:
Supported by a grant from the NICHD ( R01HD057136 ), European Leukodystrophy Association , Kelly Foundation , Run for ALD (Kane Family) , United Leukodystrophy Foundation , and the Myelin Project . The AB Sciex API4000 triple quadrupole mass spectrometer (SN J3270205) was purchased with proceeds of NIH Grant 1S10 RR16798 awarded to Walter C. Hubbard.

Keywords

  • Adrenal insufficiency
  • Adrenoleukodystrophy
  • Adrenomyeloneuropathy
  • Newborn screening
  • Peroxisomal disorders
  • Tandem mass spectrometry

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