Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China

Clinical Biochemistry - Tập 41 - Trang 616-620 - 2008
Yuan-Zong Song1,2, Bing-Xiao Li1, Hu Hao1, Ruo-Lei Xin3, Ting Zhang3, Chun-Hua Zhang4, Keiko Kobayashi2, Zi-Neng Wang5, Xiao-Ying Zheng6
1Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
2Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan
3Capital Institute of Pediatrics, Beijing 100020, China
4Matsumato Institute of Life Science International, Nagao Minami, Kanazawa 921-8154, Japan
5Department of Obstetrics and Gynecology, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
6Institute of Population Research, Peking University, Beijing, 100871, China

Tài liệu tham khảo

Nobeli, 2006, A bioinformatician's view of the metabolome, Bioessays, 28, 534, 10.1002/bies.20414 Hori, 2005, Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening, Brain Dev, 27, 39, 10.1016/j.braindev.2004.04.004 Luo, 2003, Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases, Zhonghua Er Ke Za Zhi, 41, 245 Kuhara, 2007, Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism, J Chromatogr B Analyt Technol Biomed Life Sci, 855, 42, 10.1016/j.jchromb.2007.03.031 Kuhara, 2005, Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism, Mass Spectrom Rev, 24, 814, 10.1002/mas.20038 Li, 2006, Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China, Birth Defects Res A Clin Mol Teratol, 76, 237, 10.1002/bdra.20248 Kuhara, 2002, Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry, J Chromatogr B Analyt Technol Biomed Life Sci, 781, 497, 10.1016/S1570-0232(02)00670-0 Xu, 2001, Screening for inborn errors of metabolism using gas chromatography-mass spectrometry, J Chromatogr B Biomed Sci Appl, 758, 75, 10.1016/S0378-4347(01)00042-1 Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J Hum Genet, 50, 338, 10.1007/s10038-005-0262-8 Gaber, 2007, Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients, Clin Lab, 53, 69 Ray, 2007, Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population, Epidemiology, 18, 362, 10.1097/01.ede.0000257063.77411.e9 Pettenuzzo, 2006, Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues, Int J Dev Neurosci, 24, 45, 10.1016/j.ijdevneu.2005.10.005 Saad, 2006, Lactate dehydrogenase activity is inhibited by methylmalonate in vitro, Neurochem Res, 31, 541, 10.1007/s11064-006-9054-6 Wajner, 2004, The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies, J Inherit Metab Dis, 27, 427, 10.1023/B:BOLI.0000037353.13085.e2 de Baulny, 2005, Methylmalonic and propionic acidaemias: management and outcome, J Inherit Metab Dis, 28, 415, 10.1007/s10545-005-7056-1