Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for ident...

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Autores principales: Natarajan, Archana, Christopher, Rita, Palakuzhiyil, Shruti V., Chandra, Sadanandavalli Retnaswami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851351/
https://www.ncbi.nlm.nih.gov/pubmed/33552912
http://dx.doi.org/10.1016/j.ymgmr.2021.100720
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author Natarajan, Archana
Christopher, Rita
Palakuzhiyil, Shruti V.
Chandra, Sadanandavalli Retnaswami
author_facet Natarajan, Archana
Christopher, Rita
Palakuzhiyil, Shruti V.
Chandra, Sadanandavalli Retnaswami
author_sort Natarajan, Archana
collection PubMed
description We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for identifying male X-ALD cases and heterozygous females, respectively. False negatives were found for C24:0-carnitine (11/82) and C26:0-carnitine (4/82). We conclude that C24:0 and C26:0-carnitines may not be reliable markers for X-ALD screening.
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spelling pubmed-78513512021-02-05 Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy Natarajan, Archana Christopher, Rita Palakuzhiyil, Shruti V. Chandra, Sadanandavalli Retnaswami Mol Genet Metab Rep Short Communication We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for identifying male X-ALD cases and heterozygous females, respectively. False negatives were found for C24:0-carnitine (11/82) and C26:0-carnitine (4/82). We conclude that C24:0 and C26:0-carnitines may not be reliable markers for X-ALD screening. Elsevier 2021-01-30 /pmc/articles/PMC7851351/ /pubmed/33552912 http://dx.doi.org/10.1016/j.ymgmr.2021.100720 Text en © 2021 The Authors. Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Natarajan, Archana
Christopher, Rita
Palakuzhiyil, Shruti V.
Chandra, Sadanandavalli Retnaswami
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title_full Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title_fullStr Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title_full_unstemmed Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title_short Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
title_sort utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of x-linked adrenoleukodystrophy
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851351/
https://www.ncbi.nlm.nih.gov/pubmed/33552912
http://dx.doi.org/10.1016/j.ymgmr.2021.100720
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