PDF(Pubmed)
Abstract：
Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only few cases of pregnancies in MSUD mothers have been reported so far.
We present the favorable outcome of a pregnancy in a woman with classical MSUD. She presented in the metabolic outpatient clinic in week 7 of gestation. Branched-chain amino acid concentrations were measured at least weekly to adjust dietary leucine intake. Despite excellent compliance, leucine concentrations frequently exceeded the target value of < 300 μmol/L during the first trimester. From the second trimester until delivery, protein and leucine intake increased continuously to about threefold compared to pre-pregnancy values. To maximize patient safety during delivery and the postpartum period, a detailed plan including peripartal infusion therapy, dietary recommendations and monitoring parameters was developed. Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. Lactation was successfully implemented. Leucine levels were maintained within the target range throughout the complete postpartum period. In addition to our case, we give an overview about all cases of pregnancies in MSUD mothers published so far.
Management of pregnancy, delivery, postpartum period and lactation may be challenging in patients with MSUD. Careful monitoring and interdisciplinary collaboration is essential to minimize the risk of metabolic crisis, especially after delivery.
We present the favorable outcome of a pregnancy in a woman with classical MSUD. She presented in the metabolic outpatient clinic in week 7 of gestation. Branched-chain amino acid concentrations were measured at least weekly to adjust dietary leucine intake. Despite excellent compliance, leucine concentrations frequently exceeded the target value of < 300 μmol/L during the first trimester. From the second trimester until delivery, protein and leucine intake increased continuously to about threefold compared to pre-pregnancy values. To maximize patient safety during delivery and the postpartum period, a detailed plan including peripartal infusion therapy, dietary recommendations and monitoring parameters was developed. Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. Lactation was successfully implemented. Leucine levels were maintained within the target range throughout the complete postpartum period. In addition to our case, we give an overview about all cases of pregnancies in MSUD mothers published so far.
Management of pregnancy, delivery, postpartum period and lactation may be challenging in patients with MSUD. Careful monitoring and interdisciplinary collaboration is essential to minimize the risk of metabolic crisis, especially after delivery.
摘要：
枫糖浆尿病（MSUD）是支链氨基酸代谢的常染色体隐性遗传疾病。MSUD患者存在威胁生命的代谢失代偿与酮症酸中毒和脑病的风险。这些发作通常是由生理压力引发的。迄今为止，据报道，只有少数MSUD母亲怀孕。
我们介绍了患有经典MSUD的女性怀孕的有利结果。她在妊娠第7周出现在代谢门诊。至少每周测量支链氨基酸浓度以调节膳食亮氨酸摄入量。尽管合规性很好，在孕早期，亮氨酸浓度经常超过目标值<300μmol/L。从妊娠中期到分娩，蛋白质和亮氨酸的摄入量与孕前相比连续增加到约三倍。为了最大限度地提高患者在分娩和产后期间的安全，一个详细的计划，包括外周输液治疗，制定了饮食建议和监测参数。初次剖腹产在妊娠第38周，病人生下了一个健康的女孩。成功实施泌乳。在整个产后期间,亮氨酸水平维持在目标范围内。除了我们的案子,我们概述了迄今为止发表的MSUD母亲怀孕的所有病例。
怀孕管理，delivery,MSUD患者的产后和泌乳可能具有挑战性。仔细监测和跨学科合作对于最大限度地降低代谢危机的风险至关重要。尤其是交付后。
我们介绍了患有经典MSUD的女性怀孕的有利结果。她在妊娠第7周出现在代谢门诊。至少每周测量支链氨基酸浓度以调节膳食亮氨酸摄入量。尽管合规性很好，在孕早期，亮氨酸浓度经常超过目标值<300μmol/L。从妊娠中期到分娩，蛋白质和亮氨酸的摄入量与孕前相比连续增加到约三倍。为了最大限度地提高患者在分娩和产后期间的安全，一个详细的计划，包括外周输液治疗，制定了饮食建议和监测参数。初次剖腹产在妊娠第38周，病人生下了一个健康的女孩。成功实施泌乳。在整个产后期间,亮氨酸水平维持在目标范围内。除了我们的案子,我们概述了迄今为止发表的MSUD母亲怀孕的所有病例。
怀孕管理，delivery,MSUD患者的产后和泌乳可能具有挑战性。仔细监测和跨学科合作对于最大限度地降低代谢危机的风险至关重要。尤其是交付后。
