Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatid...

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Main Authors: Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
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Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300447
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spelling doaj-53cecbebb81a4aac93debd1538eccfae2020-11-25T00:36:36ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-09-0112C11511810.1016/j.ymgmr.2017.06.004Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophyChen Wu0Takeo Iwamoto1Junko Igarashi2Takashi Miyajima3Mohammad Arif Hossain4Hiroko Yanagisawa5Keiko Akiyama6Haruo Shintaku7Yoshikatsu Eto8Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanCore Research Facilities for Basic Science, Molecular Cell Biology, The Jikei University School of Medicine, Tokyo, JapanRare Disease Research Center, AnGes MG, Kawasaki, Kanagawa, JapanAdvanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanAdvanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanAdvanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanAdvanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanDepartment of Pediatrics, Osaka City University Hospital, Osaka, JapanAdvanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, JapanX-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4). Results indicated that 26:0 LysoPC had strong significance for discrimination of patients by the amounts of 2.0 to 4.0 and 0.1 to 1.9 pmol/punch for patients and newborns/healthy adults, respectively. Based on these values, we recommend that further diagnostic confirmation is essential if the amount of 26:0 LysoPC in DBS is above 1.7 pmol/punch.http://www.sciencedirect.com/science/article/pii/S2214426917300447X-ALDAMNVery long chain fatty acidsLysophosphatidylcholines
collection DOAJ
language English
format Article
sources DOAJ
author Chen Wu
Takeo Iwamoto
Junko Igarashi
Takashi Miyajima
Mohammad Arif Hossain
Hiroko Yanagisawa
Keiko Akiyama
Haruo Shintaku
Yoshikatsu Eto
spellingShingle Chen Wu
Takeo Iwamoto
Junko Igarashi
Takashi Miyajima
Mohammad Arif Hossain
Hiroko Yanagisawa
Keiko Akiyama
Haruo Shintaku
Yoshikatsu Eto
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
Molecular Genetics and Metabolism Reports
X-ALD
AMN
Very long chain fatty acids
Lysophosphatidylcholines
author_facet Chen Wu
Takeo Iwamoto
Junko Igarashi
Takashi Miyajima
Mohammad Arif Hossain
Hiroko Yanagisawa
Keiko Akiyama
Haruo Shintaku
Yoshikatsu Eto
author_sort Chen Wu
title Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
title_short Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
title_full Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
title_fullStr Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
title_full_unstemmed Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
title_sort application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for japanese newborn screening of x-linked adrenoleukodystrophy
publisher Elsevier
series Molecular Genetics and Metabolism Reports
issn 2214-4269
publishDate 2017-09-01
description X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4). Results indicated that 26:0 LysoPC had strong significance for discrimination of patients by the amounts of 2.0 to 4.0 and 0.1 to 1.9 pmol/punch for patients and newborns/healthy adults, respectively. Based on these values, we recommend that further diagnostic confirmation is essential if the amount of 26:0 LysoPC in DBS is above 1.7 pmol/punch.
topic X-ALD
AMN
Very long chain fatty acids
Lysophosphatidylcholines
url http://www.sciencedirect.com/science/article/pii/S2214426917300447
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