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Indian Journal of Pediatrics
Erschienen in:

17.06.2022 | Original Article

Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study

verfasst von: Ajay Patial, Arushi Gahlot Saini, Rajdeep Kaur, Seema Kapoor, Sheetal Sharda, Praveen Kumar, Sunit Singhi, Pratibha Singhi, Isha Dwivedi, Vivek Singh Malik, Mini Tageja, Gunjan Didwal, Gursimran Kaur, Bijo Varughese, Savita Verma Attri

Erschienen in: Indian Journal of Pediatrics | Ausgabe 9/2022

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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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Metadaten
Titel
Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
verfasst von
Ajay Patial
Arushi Gahlot Saini
Rajdeep Kaur
Seema Kapoor
Sheetal Sharda
Praveen Kumar
Sunit Singhi
Pratibha Singhi
Isha Dwivedi
Vivek Singh Malik
Mini Tageja
Gunjan Didwal
Gursimran Kaur
Bijo Varughese
Savita Verma Attri
Publikationsdatum
17.06.2022
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 9/2022
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-022-04207-y

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