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Screening for inherited metabolic diseases using gas chromatography–tandem mass spectrometry (GC–MS/MS) in Sichuan, China
Author(s) -
Wang Hong,
Wang Xia,
Li Yingying,
Dai Wei,
Jiang Dongmei,
Zhang Xiaodong,
Cui Yali
Publication year - 2017
Publication title -
biomedical chromatography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 65
eISSN - 1099-0801
pISSN - 0269-3879
DOI - 10.1002/bmc.3847
Subject(s) - maple syrup urine disease , dried blood , gas chromatography/tandem mass spectrometry , gas chromatography–mass spectrometry , urine , chemistry , tandem mass spectrometry , population , chromatography , mass spectrometry , medicine , environmental health , biochemistry , leucine , amino acid
The aim of this study was to retrospectively diagnose and confirm inherited metabolic diseases (IMD), from a small population of IMD high‐risk patients, with the aid of gas chromatography–tandem mass spectrometry (GC–MS/MS), technologies yet to be popularized in Sichuan, China. Using GC–MS/MS coupled with clinical diagnosis, we retrospectively analyzed samples of dried blood spots and urine specimen from 183 IMD high‐risk infant patients, who visited the West China Second Hospital of Sichuan University between June 2013 and October 2015. Four out of 183 IMD high‐risk infant patients were finally diagnosed to be IMD positive, among which two patients were identified with phenylketonuria, one with maple syrup urine disease, and 1 with methylmalonic academia. Restrictive diets and other symptomatic treatments were employed to treat the confirmed infant patients whose conditions are still under tracking and there are zero cases of death so far. GC–MS/MS was found to be an efficient and reliable way to detect IMD. It is necessary to apply GC–MS/MS, in addition to other clinical approaches, for diagnosing candidate IMD patients so that the confirmed patients can get medical intervention and timely treatment.