Soda H, Ohura T, Yoshida I, Aramaki S, Aoki K, Inokuchi T, Mikami H, Narisawa K
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
J Inherit Metab Dis. 1995;18(3):295-8. doi: 10.1007/BF00710418.
The prenatal therapy is described of a patient with vitamin B12-responsive methylmalonic acidaemia during the last 10 days of gestation with oral administration of vitamin B12 (20 mg/day) given to a mother did not normalize her urinary excretion of methylmalonic acid (MMA), which was 14.5 mmol/mol creatinine at 32 weeks of gestation. Before delivery, the mother was excreting 18.9 +/- 3.3 mmol MMA/mol creatinine (mean value at 7 days after vitamin B12 therapy), as well as at 32-37 weeks of gestation with no therapy. After birth, the level of MMA in the infant's urine was remarkably elevated (500-700 mmol/mol creatinine); the level of MMA in maternal urine decreased dramatically after delivery. Compared with two previous reports, the length of administration was not sufficient to reduce maternal MMA excretion. In future, the length of the therapy, route of administration and total dose of vitamin B12 to maintain an efficient level of vitamin B12 in an affected fetus should be considered.
本文描述了一名患有维生素B12反应性甲基丙二酸血症的患者在妊娠最后10天的产前治疗情况。母亲口服维生素B12（20毫克/天），但妊娠32周时其尿中甲基丙二酸（MMA）排泄未恢复正常，当时为14.5毫摩尔/摩尔肌酐。分娩前，母亲排泄的MMA为18.9±3.3毫摩尔/摩尔肌酐（维生素B12治疗7天后的平均值），与妊娠32 - 37周未治疗时相同。出生后，婴儿尿中MMA水平显著升高（500 - 700毫摩尔/摩尔肌酐）；分娩后母亲尿中MMA水平急剧下降。与之前两份报告相比，给药时间不足以降低母亲的MMA排泄。未来，应考虑治疗时间、给药途径以及维生素B12的总剂量，以在受影响胎儿中维持有效的维生素B12水平。
