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

School of Medicine

Research output: Contribution to journal › Article › peer-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 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

Keywords

Adrenal insufficiency
Adrenoleukodystrophy
Adrenomyeloneuropathy
Newborn screening
Peroxisomal disorders
Tandem mass spectrometry

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2013.10.019

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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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title = "Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible",

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. ",

year = "2014",

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

language = "English (US)",

volume = "111",

pages = "55--57",

journal = "Molecular genetics and metabolism",

issn = "1096-7192",

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T1 - Newborn screening for X-linked adrenoleukodystrophy

T2 - Further evidence high throughput screening is feasible

AU - Theda, Christiane

AU - Gibbons, Katy

AU - DeFor, Todd E.

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.

N1 - 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.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Adrenal insufficiency

KW - Adrenoleukodystrophy

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

Keywords

ASJC Scopus subject areas

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