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学科主题: 临床医学
题名:
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid
作者: Yao, Zhang1; Yang Yan-Ling1; Yuki, Hasegawa2; Seiji, Yamaguchi2; Shi Chun-Yan3; Song Jin-Qing1; Sujan, Sayami1; Ping, Liu; Rong, Yan; Dong Jin-Hua; Jiong, Qin1
关键词: methylmalonic acid ; prenatal diagnosis ; total homocysteine ; aminiotic fluid
刊名: CHINESE MEDICAL JOURNAL
发表日期: 2008-02-05
卷: 121, 期:3, 页:216-219
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Medicine, General & Internal
研究领域[WOS]: General & Internal Medicine
关键词[WOS]: HOMOCYSTINURIA CBLC ; ACIDEMIAS ; PROGNOSIS ; GC/MS
英文摘要:

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 (ESI/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 ESI/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 early in gestation. The level of total homocysteine in amniotic fluid may be an additional indicator of fetal combined MMA and homocysteinemia. Determination of total homocysteine level in amniotic fluid may become a convenient and reliable method for prenatal diagnosis of the disease.

语种: 英语
WOS记录号: WOS:000253116600006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56673
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Shimane Univ, Sch Med, Dept Pediat, Shimane, Japan
2.Peking Univ First Hosp, Dept Pediat, Clin Lab, Beijing 100034, Peoples R China
3.Peking Univ First Hosp, Dept Obstet & Gynecol, Beijing 100034, Peoples R China

Recommended Citation:
Yao, Zhang,Yang Yan-Ling,Yuki, Hasegawa,et al. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid[J]. CHINESE MEDICAL JOURNAL,2008,121(3):216-219.
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