Abstract
Objectives
To determine the incidence and types of inborn errors of metabolism (IEMs) in high-risk children using mass spectrometry techniques.
Methods
Children considered high-risk for IEM were screened for metabolic diseases during a 3-y period. Dried blood spots and urine samples were analyzed by tandem mass spectrometry (LC–MS/MS) and gas chromatograph–mass spectrometry (GCMS). Samples with abnormal amino acids were confirmed by high-performance liquid chromatography (HPLC).
Results
Eight hundred and twenty-two suspected cases were evaluated; of which, 87 possible cases of IEMs were identified. Homocystinuria (n = 51) was the most common IEM detected followed by biotinidase deficiency (n = 7), glutaric aciduria type 1 (n = 7), and carnitine uptake defect (n = 6). Overall, there were 45 (51.7%) cases of organic acidemia, 31 cases (35.6%) of amino acid defect, 9 (10.3%) cases of fatty-acid oxidation disorders, and 2 (2.3%) cases of probable mitochondrial disorder.
Conclusion
IEMs are common in India, with a hospital-based incidence of 1 in approximately 6642 among high-risk children. Screening of high-risk children by mass spectrometry techniques is a valuable strategy for early diagnosis of IEMs where universal newborn screening is not yet available.
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Data Availability
On reasonable request.
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Acknowledgements
The authors would like to thank Indian Council of Medical Research (ICMR), New Delhi for funding support, and all the children and their parents for their participation in the study.
Funding
The work was supported by Indian Council of Medical Research (ICMR), New Delhi, Government of India (No. 54/11/2010-BMS).
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AP collected and processed samples, helped in data analyses, revised the manuscript for important intellectual content; AGS drafted the manuscript, contributed to patient assessment and management, interpretation of data, reviewed and revised the manuscript for important intellectual content; RK collected and processed the samples, carried out data analysis and interpretation, revised the manuscript for important intellectual content; SK contributed to data acquisition, analysis and interpretation, and revised the manuscript for important intellectual content; SS, PK, SS, and PS contributed to patient assessment and management, data interpretation, and revised the manuscript for important intellectual content; ID, VSM collected and processed all the samples, carried out the experiments, data analyses and interpretation, and revised the manuscript for important intellectual content; MT carried out the experiments and data analyses, and revised the manuscript for important intellectual content; GD and GK carried out data analyses and interpretation, and revised the manuscript for important intellectual content; BV contributed to data acquisition, analysis and interpretation, and revised the manuscript for important intellectual content; SVA conceptualized and designed the study, supervised data collection and analysis, critically reviewed, and revised the manuscript for important intellectual content. SVA will act as the guarantor for this paper.
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The study was approved by the Institute Ethics Committee of PGIMER Chandigarh (No. 11/765 dated 27/07/2011).
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Written informed consent (assent wherever applicable) was obtained from the parents/guardians of the children enrolled in the study.
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Patial, A., Saini, A.G., Kaur, R. et al. Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study. Indian J Pediatr 89, 885–893 (2022). https://doi.org/10.1007/s12098-022-04207-y
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DOI: https://doi.org/10.1007/s12098-022-04207-y