%0 Journal Article
%T Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.
%A Patial A
%A Saini AG
%A Kaur R
%A Kapoor S
%A Sharda S
%A Kumar P
%A Singhi S
%A Singhi P
%A Dwivedi I
%A Malik VS
%A Tageja M
%A Didwal G
%A Kaur G
%A Varughese B
%A Attri SV
%J Indian J Pediatr
%V 89
%N 9
%D 09 2022
%M 35713767
%F 5.319
%R 10.1007/s12098-022-04207-y
%X To determine the incidence and types of inborn errors of metabolism (IEMs) in high-risk children using mass spectrometry techniques.<BR>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).<BR>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.<BR>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.