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

35 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

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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