Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid作者机构：Department of Pediatrics Peking University First Hospital Beijing100034 China Department of Pediatrics Shimane University School of MedicineJapan Department of Obstetrics and Gynecology Peking University FirstHospital Beijing 100034 China Clinical Laboratory Peking University First Hospital Beijing100034 China
出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)
年 卷 期：2008年第121卷第3期
页 面：216-219页
核心收录：
学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学]
基 金：This study was supported by grants from the Foundation lor Human Disease Genomics of Peking University (2001-02) the National Natural Science Foundation of China (No. 30471832) and the Clinical Key Program of China Ministry of Health (No. 2001-0912).Acknowledgements: We thank Prof. Yosuke Shigematsu at the Department of Health Science and Pediatrics Faculty of Medical Sciences University of Fukui for technical assistance and collaboration Prof. GU Xue-fan at Shanghai Institute for Pediatrics Research Shanghai Jiaotong University and Prof. LUO Xiao-ping at the Department of Pediatrics Tongji Hospital Huazhong University of Science and Technology and other colleagues for their support and helpful discussion
主 题：methylmalonic acid prenatal diagnosis total homocysteine aminiotic fluid
摘 要：Background Methylmalonic aciduria （MMA） is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry （GC/MS） and tandem mass spectrometry （ESl/MS/MS） have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA. Methods The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16-24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESl/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay. Results In two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. Conclusions The metabolic abnormalities of MMA occur
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