Detection of IEMs by mass spectrometry techniques in high-risk children: a Pilot study
A Patial, AG Saini, R Kaur, S Kapoor, S Sharda… - Indian journal of …, 2022 - Springer
Indian journal of Pediatrics, 2022•Springer
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 …
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 …
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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