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A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous
Background: The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases. Methods: We detected concentrations of 43 kinds of...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589887/ https://www.ncbi.nlm.nih.gov/pubmed/36299584 http://dx.doi.org/10.3389/fgene.2022.941938 |
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author | Zhang, Chunyan Dha, Drun Cheng, Yuxuan Ma, Ya Meng, Yan Tse, Drun Ngawang, Dolma Dekyi, Pedrun Jiang, Tao Shu, Yang Cui, Jiayi Li, Jing Tian, Yaping |
author_facet | Zhang, Chunyan Dha, Drun Cheng, Yuxuan Ma, Ya Meng, Yan Tse, Drun Ngawang, Dolma Dekyi, Pedrun Jiang, Tao Shu, Yang Cui, Jiayi Li, Jing Tian, Yaping |
author_sort | Zhang, Chunyan |
collection | PubMed |
description | Background: The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases. Methods: We detected concentrations of 43 kinds of amino acids, acylcarnitines and succinylacetone in the dried blood spots of 18482 newborns using liquid chromatography tandem mass spectrometry and diagnose the case by gene sequencing. We compared the indexes between Tibet and our lab, where most data come from an inland area and Han Chinese people. Then we compared amino acid and acylcarnitine levels of seven regions in Tibet and explored their impact factors. Results: We described the levels of amino acids and acylcarnitines in Tibet newborns using 95% confidence intervals. The distribution of amino acid and acylcarnitines were different in Tibet. Conclusion: This study has contributed to filling in the blanks of Tibet newborn screening, which should be considered in the newborn metabolic disease screening in this area. |
format | Online Article Text |
id | pubmed-9589887 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95898872022-10-25 A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous Zhang, Chunyan Dha, Drun Cheng, Yuxuan Ma, Ya Meng, Yan Tse, Drun Ngawang, Dolma Dekyi, Pedrun Jiang, Tao Shu, Yang Cui, Jiayi Li, Jing Tian, Yaping Front Genet Genetics Background: The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases. Methods: We detected concentrations of 43 kinds of amino acids, acylcarnitines and succinylacetone in the dried blood spots of 18482 newborns using liquid chromatography tandem mass spectrometry and diagnose the case by gene sequencing. We compared the indexes between Tibet and our lab, where most data come from an inland area and Han Chinese people. Then we compared amino acid and acylcarnitine levels of seven regions in Tibet and explored their impact factors. Results: We described the levels of amino acids and acylcarnitines in Tibet newborns using 95% confidence intervals. The distribution of amino acid and acylcarnitines were different in Tibet. Conclusion: This study has contributed to filling in the blanks of Tibet newborn screening, which should be considered in the newborn metabolic disease screening in this area. Frontiers Media S.A. 2022-09-26 /pmc/articles/PMC9589887/ /pubmed/36299584 http://dx.doi.org/10.3389/fgene.2022.941938 Text en Copyright © 2022 Zhang, Dha, Cheng, Ma, Meng, Tse, Ngawang, Dekyi, Jiang, Shu, Cui, Li and Tian. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Zhang, Chunyan Dha, Drun Cheng, Yuxuan Ma, Ya Meng, Yan Tse, Drun Ngawang, Dolma Dekyi, Pedrun Jiang, Tao Shu, Yang Cui, Jiayi Li, Jing Tian, Yaping A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title | A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title_full | A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title_fullStr | A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title_full_unstemmed | A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title_short | A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous |
title_sort | preliminary investigation of amino acid and acylcarnitine levels in neonates from the tibet autonomous |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589887/ https://www.ncbi.nlm.nih.gov/pubmed/36299584 http://dx.doi.org/10.3389/fgene.2022.941938 |
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