PRENATAL THERAPY OF A PATIENT WITH VITAMIN-B12-RESPONSIVE METHYLMALONIC ACIDEMIA
PRENATAL THERAPY OF A PATIENT WITH VITAMIN-B12-RESPONSIVE METHYLMALONIC ACIDEMIA
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DOI：
10.1056/nejm197508142930701
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发表时间：
1975-01-01
影响因子：
158.5
通讯作者：
TANAKA, K
中科院分区：
文献类型：
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作者：
AMPOLA, MG;MAHONEY, MJ;TANAKA, K
在羊水细胞培养中发现中期胎儿由于缺乏5 ' -脱氧腺苷钴胺素合成而导致甲基丙二酸血症。在羊水和产妇尿液中也发现甲基丙二酸浓度升高。在妊娠的最后9周，母亲接受了大剂量维生素b12的治疗，逆转了母体不断增加的甲基丙二酸排泄，在妊娠31周时，甲基丙二酸每毫克肌酐为23 μg。临产前，母亲的排泄物达到了5微克，是正常水平的2 ~ 3倍。出生时，婴儿尿液中的甲基丙二酸含量（每毫克肌酐67μg）和血清中的甲基丙二酸含量（每毫升肌酐2.0 μg）仅中度升高，血清中维生素b12浓度非常高。口服蛋白质后，血清和尿液中的酸水平升高，但在服用维生素b12后下降。目前婴儿仅靠限制蛋白质饮食发育正常。甲基丙二酸血症的产前治疗可以通过给母亲大量维生素b12来实现。[中华医学杂志](3):313 - 317,2002。
Methylmalonic acidemia due to deficient synthesis of 5′-deoxyadenosylcobalamin was discovered in a mid-term fetus by culture of amniotic-fluid cells. Elevated concentrations of methylmalonic acid were also found in amniotic fluid and maternal urine. Treatment during the last nine weeks of gestation with large doses of vitamin B12given to the mother reversed the increasing maternal excretion of methylmalonic acid, which was 23 μg per milligram of creatinine at 31 weeks' gestation. Just before delivery, the mother was excreting 5 μg, two to three times normal.At birth the methylmalonic acid content of the baby's urine (67μg per milligram of creatinine) and serum (2.0 μg per milliliter) was only moderately elevated, and serum vitamin B12concentration was very high. Acid levels rose in serum and urine in response to oral protein loading, but subsided after vitamin B12administration. The infant is developing normally on a restricted protein diet alone at present.Prenatal therapy of methylmalonic acidemia is possible with large amounts of vitamin B12administered to the mother.(N Engl J Med 293:313–317,1975)