Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
10.3760/cma.j.cn112140-20220117-00056
- VernacularTitle:气相-色谱质谱法尿有机酸检测诊断遗传代谢病患儿的疾病谱
- Author:
Xinxin BU
1
;
Wenjuan QIU
;
Huiwen ZHANG
;
Xiaolan GAO
;
Xia ZHAN
;
Ting CHEN
;
Feng XU
;
Yuchao LIU
;
Xuefan GU
;
Lianshu HAN
Author Information
1. 上海交通大学医学院附属新华医院儿内分泌遗传代谢科 上海市儿科医学研究所，上海 200092
- Keywords:
Gas chromatography-mass spectrometry;
Amino acids;
Fatty acids;
Organic acids;
Metabolism inborn errors
- From:
Chinese Journal of Pediatrics
2022;60(6):522-526
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry.Methods:From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed.Results:Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency).Conclusion:Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.
