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Newborn screening for 3‐hydroxy‐3‐methylglutaric aciduria using direct analysis in real‐time mass spectrometry
Author(s) -
Huang Zhongping,
Liu Yanshuxian,
Huang Xiaoli,
Hu Zhenzhen,
Liu Huijun,
Wang Lili,
Liu Charles,
Ren Yiping
Publication year - 2019
Publication title -
journal of mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 1076-5174
DOI - 10.1002/jms.4314
Subject(s) - chemistry , detection limit , dart ion source , mass spectrometry , calibration curve , chromatography , dart , deprotonation , urine , analytical chemistry (journal) , quantitative analysis (chemistry) , thermal desorption , ion , desorption , ionization , biochemistry , programming language , organic chemistry , adsorption , electron ionization , computer science
Abstract A novel method utilizing ambient thermal desorption ionization with a direct analysis in real‐time source integrated with mass spectrometry (DART‐MS) was established and applied to the rapid analysis of 3‐hydroxy‐3‐methylglutaric (3‐HMG) acid in the neonatal urine. Instrument parameter settings were optimized to obtain high sensitive and accurate determination of 3‐HMG acid. The use of helium gas heated to temperature of 400°C was observed to permit deprotonation, 3‐HMG acid producing an abundant (M‐H) − ( m/z 161) in the negative ion mode. The calibration curve was determined to be linear over the range of 0.05‐5 mg/L, with the correlation coefficient r = 0.9988 and the relative standard deviations (n = 6) in the range of 1.5‐11.8%. The limit of detection was 0.002 mg/L, and the limit of quantitation was 0.007 mg/L. The recoveries ranged from 88.0% to 123.1%. Four urine samples from patients and four simulated urine samples were investigated. The results of DART‐MS were in agreement with the values determined using established methods at the hospitals. The proposed method demonstrated significant potential in the application of the high‐throughput screening in newborn screening.