Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-01-01
|
| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1278750/full |
| _version_ | 1797356724569505792 |
|---|---|
| author | Gulmira Zharmakhanova Victoria Kononets Saule Balmagambetova Lyazzat Syrlybayeva Eleonora Nurbaulina Zhanna Zhussupova Svetlana Sakhanova Dinmukhamed Ayaganov Svetlana Kim Akmaral Zhumalina |
| author_facet | Gulmira Zharmakhanova Victoria Kononets Saule Balmagambetova Lyazzat Syrlybayeva Eleonora Nurbaulina Zhanna Zhussupova Svetlana Sakhanova Dinmukhamed Ayaganov Svetlana Kim Akmaral Zhumalina |
| author_sort | Gulmira Zharmakhanova |
| collection | DOAJ |
| description | Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www.frontiersin.org/register?returnUrl=https://loop.frontiersin.org 2. To set the reference values of metabolites in the child population; 3. To analyze the age distribution, prevalence, and age of onset for each identified IEM, further comparing the obtained findings with those from previously published reports in other populations. Methods: To set the reference values of 51 metabolites in the child population, 750 healthy children will be included. The selective screening will be performed among 1,500 patients aged 1 day to 18 years with suspected hereditary metabolic disorders. Anticipated results: The results of selective screening will be interpreted by comparison with the reference values established. Diagnosis will be based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, and urine levels of organic acids and tests for gene mutations. An assessment of 37 inborn errors of metabolism frequencies in high-risk children will be performed. The research will further develop the national as selective as expanded newborn screening programs. The study was registered in clinicaltrials. gov (https://www.clinicaltrials.gov/study/NCT05910151) on 16 June 2023. |
| first_indexed | 2024-03-08T14:31:44Z |
| format | Article |
| id | doaj.art-13ec297287d045ea8ffa6035dc77b125 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-08T14:31:44Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-13ec297287d045ea8ffa6035dc77b1252024-01-12T08:22:10ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-01-011410.3389/fgene.2023.12787501278750Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocolGulmira Zharmakhanova0Victoria Kononets1Saule Balmagambetova2Lyazzat Syrlybayeva3Eleonora Nurbaulina4Zhanna Zhussupova5Svetlana Sakhanova6Dinmukhamed Ayaganov7Svetlana Kim8Akmaral Zhumalina9Department of Natural Sciences, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Natural Sciences, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Oncology, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Natural Sciences, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of General Medical Practice, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanAktobe Regional Tertiary Care Center, Department of Neonatal Pathology, Aktobe, KazakhstanScientific-Practical Center, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Neurology, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Children’s Diseases No. 2, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanDepartment of Children’s Diseases No. 1 with Neonatology, West Kazakhstan Marat Ospanov Medical University, Aktobe, KazakhstanData on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www.frontiersin.org/register?returnUrl=https://loop.frontiersin.org 2. To set the reference values of metabolites in the child population; 3. To analyze the age distribution, prevalence, and age of onset for each identified IEM, further comparing the obtained findings with those from previously published reports in other populations. Methods: To set the reference values of 51 metabolites in the child population, 750 healthy children will be included. The selective screening will be performed among 1,500 patients aged 1 day to 18 years with suspected hereditary metabolic disorders. Anticipated results: The results of selective screening will be interpreted by comparison with the reference values established. Diagnosis will be based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, and urine levels of organic acids and tests for gene mutations. An assessment of 37 inborn errors of metabolism frequencies in high-risk children will be performed. The research will further develop the national as selective as expanded newborn screening programs. The study was registered in clinicaltrials. gov (https://www.clinicaltrials.gov/study/NCT05910151) on 16 June 2023.https://www.frontiersin.org/articles/10.3389/fgene.2023.1278750/fullinborn errors of metabolismtandem mass spectrometryselective screeningKazakhstanamino acidsacylcarnitines |
| spellingShingle | Gulmira Zharmakhanova Victoria Kononets Saule Balmagambetova Lyazzat Syrlybayeva Eleonora Nurbaulina Zhanna Zhussupova Svetlana Sakhanova Dinmukhamed Ayaganov Svetlana Kim Akmaral Zhumalina Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol Frontiers in Genetics inborn errors of metabolism tandem mass spectrometry selective screening Kazakhstan amino acids acylcarnitines |
| title | Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol |
| title_full | Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol |
| title_fullStr | Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol |
| title_full_unstemmed | Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol |
| title_short | Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol |
| title_sort | selective screening for inborn errors of metabolism using tandem mass spectrometry in west kazakhstan children study protocol |
| topic | inborn errors of metabolism tandem mass spectrometry selective screening Kazakhstan amino acids acylcarnitines |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1278750/full |
| work_keys_str_mv | AT gulmirazharmakhanova selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT victoriakononets selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT saulebalmagambetova selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT lyazzatsyrlybayeva selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT eleonoranurbaulina selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT zhannazhussupova selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT svetlanasakhanova selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT dinmukhamedayaganov selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT svetlanakim selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol AT akmaralzhumalina selectivescreeningforinbornerrorsofmetabolismusingtandemmassspectrometryinwestkazakhstanchildrenstudyprotocol |