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Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study
Gulmira Zharmakhanova1, Victoria Kononets1, Saule Balmagambetova2
1Department of Natural Sciences, West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan.
Insights
This study screens for inborn errors of metabolism in children in western Kazakhstan, establishing reference values for metabolites and assessing disease prevalence to improve newborn screening programs.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Limited data exists on the prevalence of inborn errors of metabolism (IEMs) in Kazakhstan.
- Hereditary metabolic diseases pose a significant health burden, necessitating accurate diagnostic tools.
Purpose of the Study:
- To conduct selective screening for IEMs in children (1 day to 18 years) in western Kazakhstan using LC-MS/MS.
- To establish reference values for amino acids, acylcarnitines, and succinylacetone in healthy Kazakh children.
- To determine the prevalence, age distribution, and age of onset of detected IEMs.
Main Methods:
- Selective screening of 1,500 at-risk children using LC-MS/MS.
- Establishing reference values using blood samples from 750 healthy children.
- Diagnosis confirmed by clinical signs, metabolite levels, organic acids, and genetic testing.
Main Results:
- Assessment of 37 IEM frequencies in high-risk pediatric population.
- Establishing crucial reference ranges for key metabolites in children.
- Data will inform national selective and expanded newborn screening programs.
Conclusions:
- This research will provide the first comprehensive data on IEM prevalence in western Kazakhstan.
- Findings will enable the development and enhancement of national newborn screening initiatives.
- Improved diagnostic capabilities for hereditary metabolic diseases in the region.
Abstract:
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.
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