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

doi:10.1016/j.ymgme.2013.10.019

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

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45 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 language	English (US)
Pages (from-to)	55-57
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	111
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2013.10.019
State	Published - 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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Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., Liu, A. K., Moser, A. B., & Raymond, G. V. (2014). Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible. Molecular Genetics and Metabolism, 111(1), 55-57. https://doi.org/10.1016/j.ymgme.2013.10.019

Theda, C, Gibbons, K, DeFor, TE, Donohue, PK, Golden, WC, Kline, AD, Gulamali-Majid, F, Panny, SR, Hubbard, WC, Jones, RO, Liu, AK, Moser, AB & Raymond, GV 2014, 'Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible', Molecular Genetics and Metabolism, vol. 111, no. 1, pp. 55-57. https://doi.org/10.1016/j.ymgme.2013.10.019

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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.",

keywords = "Adrenal insufficiency, Adrenoleukodystrophy, Adrenomyeloneuropathy, Newborn screening, Peroxisomal disorders, Tandem mass spectrometry",

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

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. ",

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doi = "10.1016/j.ymgme.2013.10.019",

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AU - Theda, Christiane

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AU - Donohue, Pamela K.

AU - Golden, W. Christopher

AU - Kline, Antonie D.

AU - Gulamali-Majid, Fizza

AU - Panny, Susan R.

AU - Hubbard, Walter C.

AU - Jones, Richard O.

AU - Liu, Anita K.

AU - Moser, Ann B.

AU - Raymond, Gerald V.

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PY - 2014

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KW - Adrenomyeloneuropathy

KW - Newborn screening

KW - Peroxisomal disorders

KW - Tandem mass spectrometry

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

Abstract

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Keywords

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