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Published on: June 25, 2010
Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
Ajay Patial1, Arushi Gahlot Saini2, Rajdeep Kaur1
1Pediatric Biochemistry Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
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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