Prenatal and postnatal treatment in cobalamin C defect
Prenatal and postnatal treatment in cobalamin C defect
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DOI：
10.1016/j.jpeds.2005.04.040
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发表时间：
2005-10-01
影响因子：
5.1
通讯作者：
Sass, JO
中科院分区：
文献类型：
--
作者：
Huemer, M;Simma, B;Sass, JO
目的评价妊娠期应用羟钴胺素（OH-Cbl）治疗有严重钴胺素C缺陷风险的孕妇和产后治疗受影响儿童的效果。研究设计非随机干预的观察性研究。结果与妊娠晚期发现母亲甲基丙二酸尿症的受影响胎儿的报道相反，在我们的病例中没有发现母亲甲基丙二酸尿症。给予产前肌肉注射OH-Cbl治疗。我们没有发现脐带血红细胞中奇数长链脂肪酸的浓度反映胎儿甲基丙二酸学术界。出生后，婴儿接受肌肉注射OH-Cbl和口服肉毒碱治疗。口服叶酸和甜菜碱作为辅助治疗，以降低血浆总同型半胱氨酸。由于代谢控制不足，引入了天然蛋白质减少的饮食。孩子有正常的发展里程碑，但有眼球震颤，色素沉着视网膜病变，和离散躯干肌张力减退症。结论尽管产前和产后治疗，充分的代谢控制，没有代谢危机，和正常的发展里程碑，这个病人的钴胺素C缺陷的特征性症状的疾病。
Objective To evaluate prenatal treatment with hydroxycobalamin (OH-Cbl) in a pregnancy at risk for a severe form of the cobalamin C defect and postnatal treatment of the affected child.Study design Observational study with non-randomized intervention.Results In contrast to reported pregnancies with affected fetuses in which maternal methylmalonic aciduria was found in the last trimester of pregnancy, there was no maternal methylmalonic aciduria in our case, given prenatal treatment with intramuscular OH-Cbl. We did not find that the concentration of odd long-chain fatty acids in cord blood erythrocytes reflects fetal methylmalonic academia. After birth, the infant was treated with intramuscular OH-Cbl and oral carnitine. Oral folate and betaine were added as adjunct therapy to decrease plasma total homocysteine. Because of inadequate metabolic control, a diet reduced in natural protein was introduced. The child had normal developmental milestones but had nystagmus, hyper-pigmented retinopathy, and discrete truncal muscular hypotonia.Conclusions Despite prenatal and postnatal treatment, adequate metabolic control, absence of metabolic crises, and normal developmental milestones, this patient with the cobalamin C defect had characteristic symptoms of the disease.