Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Yana Sandlers, Ann B. Moser, Walter C. Hubbard, Lisa E. Kratz, Richard O. Jones, Gerald V. Raymond

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, and the adrenal cortex. Newborn screening for X-ALD has been proposed to allow improved diagnosis along with prospective monitoring and treatment for this severe disorder. Newborn dried whole blood spot (DBS) 26:0 lysophosphatidyl choline was validated as a diagnostic marker for X-ALD and other peroxisomal disorders of peroxisomal β-oxidation.In this study, we developed a new one step extraction procedure that simultaneously extracts acyl carnitines and the lysophosphatidyl cholines from DBS. Further analysis of these metabolites has been performed by two different high throughput LC-MS/MS methods. The 26:0 lysophosphatidyl choline levels in this study were consistent with previously published values and discriminate between healthy and abnormal profiles. There is a very minor modification to the original acyl carnitine extraction procedure and our data indicates that there is no significant effect on acyl carnitine levels in DBS.Our new method potentially can be complementary to the current newborn screening panel. It successfully combines the existing method for acyl carnitine analysis and 26:0 lysophosphatidyl choline that can be applied for prospective X-ALD newborn screening.

Original languageEnglish (US)
Pages (from-to)416-420
Number of pages5
JournalMolecular Genetics and Metabolism
Volume105
Issue number3
DOIs
StatePublished - Mar 1 2012

Fingerprint

Adrenoleukodystrophy
Lysophosphatidylcholines
Carnitine
Choline
Screening
Blood
Peroxisomal Disorders
Neurology
Metabolites
Inborn Genetic Diseases
Adrenal Cortex
Nervous System
Throughput
Oxidation
Monitoring

All Science Journal Classification (ASJC) codes

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

Cite this

Sandlers, Yana ; Moser, Ann B. ; Hubbard, Walter C. ; Kratz, Lisa E. ; Jones, Richard O. ; Raymond, Gerald V. / Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots : Prospective newborn screening for X-linked adrenoleukodystrophy. In: Molecular Genetics and Metabolism. 2012 ; Vol. 105, No. 3. pp. 416-420.
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Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots : Prospective newborn screening for X-linked adrenoleukodystrophy. / Sandlers, Yana; Moser, Ann B.; Hubbard, Walter C.; Kratz, Lisa E.; Jones, Richard O.; Raymond, Gerald V.

In: Molecular Genetics and Metabolism, Vol. 105, No. 3, 01.03.2012, p. 416-420.

Research output: Contribution to journalArticle

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AU - Raymond, Gerald V.

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