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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.4217
Subject(s) - chemistry , dart ion source , analyte , mass spectrometry , urine , chromatography , protein precipitation , desorption electrospray ionization , chemical ionization , dart , newborn screening , ionization , ion , biochemistry , electron ionization , organic chemistry , computer science , programming language
DART ("Direct Analysis in Real Time") is a versatile non‐contact ionization source that can be fitted to a variety of mass spectrometers. Reported application span the rapid detection of a diverse array of analytes in solid, liquid and gaseous samples. DART‐MS operates at ambient pressure and at ground potential. It has been used for the direct detection of chemicals on surfaces including concrete, skin, currency, foods, leaves and clothing.The Special Feature in this issue of the Journal highlights work Huang and colleagues where they apply DART‐MS to the rapid quantification of 3‐hydroxy‐3‐methylglutaric acid (3‐HMG) in human urine. Organic acid disorders are a large subgroup of inborn errors of metabolism characterized by increased concentrations of organic acids in urine. Although these disorders are rare ‐ occurring in only about 0.02% of births ‐ they can have devastating consequences. For example, 3‐HMG aciduria can lead to brain, heart and liver damage, and has a reported mortality of about 20%. Fortunately, however, serious adverse effects can be prevented, and the disorder managed, if 3‐HMG aciduria is diagnosed early.Huang and colleagues quantified 3‐HMG in neonatal urine by DART‐MS following protein precipitation and solvent extraction. There was no chemical modification of the analyte, no timeconsuming chromatographic separation and the abundant [M‐H]‐ (m/z 161) ion was measured directly. The DART sample introduction step was automated and DART‐MS values were in agreement with those determined by standard laboratory methods.