| Methylmalonic Acid in Amniotic Fluid and Maternal Urine as a Marker for Neural Tube Defects~ |
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| 引用本文： | 罗小平,张炼,魏虹,刘皖君,王慕逖,宁琴. Methylmalonic Acid in Amniotic Fluid and Maternal Urine as a Marker for Neural Tube Defects~[J]. 华中科技大学学报(医学英德文版), 2004, 24(2): 166-169. DOI: 10.1007/BF02885420 |
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| 作者姓名： | 罗小平 张炼 魏虹 刘皖君 王慕逖 宁琴 |
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| 作者单位： | Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology，Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology，Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology，Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology，Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology，Department of Pediatrics，Tongji Hospital，Center for the Diagnosis of Genetic Metabolic Diseases，Tongji Medical College，Huazhong University of Science and Technology Wuhan 430030，China，Wuhan 430030，China，Wuhan 430030，China，Wuhan 430030，China，Wuhan 430030，China，Wuhan 430030，China |
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| 基金项目： | ThisworkwassupportedbytheNationalScienceFundforDistin guishedYoungScholarsfromtheNaturalScienceFoundationofChi na (No .30 12 5 0 19) ,andtheClinicalKeySubjectsfromtheMin istryofHealthofChina (No .970 2 4 0 ) |
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| 摘 要： | Neuraltubedefects (NTDs) ,ariseduetofailureofclosureoftheneuraltube,encompassingcraniorachis chisistotalis,anencephaly ,myeloschisis,encephaloce les,andmeningomyeloceles (andArnold Chiarimalfor mation) ,areamongthemostcommonneurologicaldevel opmentalbirth…
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| 关 键 词： | 甲基丙二酸 神经管缺陷 尿液检测 羊水 早期诊断 |
| 收稿时间： | 2003-05-02 |
Methylmalonic acid in amniotic fluid and maternal urine as a marker for neural tube defects |
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| Luo Xiaoping,Zhang Lian,Wei Hong,Liu Wanjun,Wang Muti,Ning Qin. Methylmalonic acid in amniotic fluid and maternal urine as a marker for neural tube defects[J]. Journal of Huazhong University of Science and Technology. Medical sciences, 2004, 24(2): 166-169. DOI: 10.1007/BF02885420 |
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| Authors: | Luo Xiaoping Zhang Lian Wei Hong Liu Wanjun Wang Muti Ning Qin |
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| Affiliation: | Department of Pediatrics, Tongji Hospital, Center for the Diagnosis of Genetic Metabolic Diseases, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030,China |
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| Abstract: | Summary To evaluate the implication of methymalonic acid (MMA) in the early diagnosis of neural tube defects (NTD), a quantitative assay for MMA was established by using gas chromatographymass spectrometry with stable isotope of MMA as an internal standard. Amniotic fluid and maternal urine MMA concentration, maternal serum folate, red blood cell folate and vitamin B12 levels were measured in the middle term of NTD-affected and normal pregnancies. Amniotic fluid and maternal urine MMA concentrations in the middle term of NTD affected pregnancies (1.4±0.9 μmol/L, and 22.1±12.6 nmol/μmol creatinine) were significantly higher than that of normal pregnancies (1.0±0.4μmol/L, and 2.5±1.1 nmol/μmol creatinine). There was no significant differences between normal and NTD pregnancies for serum folate, red blood cell folate and vitamin B12 levels. The results suggested that MMAs in amniotic fluid and maternal urine are sensitive markers for early diagnosis of NTD. Vitamin B12 is an active cofactor involved in the remethylation of homocycteine and its deficiency is an independent risk factor for NTD. MMA is a specific and sensitive marker for intracellular vitamin B12 deficiency. This study suggests that it is necessary to monitor the vitamin B12 deficiency and advocates vitamin B12 supplementation with folate prevention program. LUO Xiaoping, male, born in 1964, Professor This work was supported by the National Science Fund for Distinguished Young Scholars from the Natural Science Foundation of China (No. 30125019), and the Clinical Key Subjects from the Ministry of Health of China (No. 970240). |
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| Keywords: | neural tube defects methymalonic acid vitamin B 12 folic acid |
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