• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report.枫糖尿症女性成功妊娠：病例报告
JIMD Rep. 2015;21:103-7. doi: 10.1007/8904_2014_401. Epub 2015 Feb 27.
2
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.枫糖尿症患者的成功妊娠：病例报告及文献复习。
Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7.
3
Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.枫糖尿症和甲基丙二酸尿症患儿支链氨基酸摄入量的评估。
J Inherit Metab Dis. 1990;13(2):125-36. doi: 10.1007/BF01799675.
4
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.患有枫糖尿症的女性在妊娠、分娩及哺乳期的管理
JPEN J Parenter Enteral Nutr. 2015 Sep;39(7):875-9. doi: 10.1177/0148607114526451. Epub 2014 Mar 11.
5
Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.枫糖尿症：临床、脑电图及血浆氨基酸与急性神经毒性理论机制的相关性
Int J Neurosci. 1994 Nov;79(1-2):21-45. doi: 10.3109/00207459408986065.
6
Pregnancy in a woman with maple syrup urine disease.患有枫糖尿症的女性怀孕。
J Inherit Metab Dis. 1998 Apr;21(2):89-94. doi: 10.1023/a:1005396823030.
7
Nutrient management in the intrapartum period in maternal maple syrup urine disease.患有枫糖尿症的产妇产时的营养管理
Mol Genet Metab Rep. 2021 Jan 29;26:100711. doi: 10.1016/j.ymgmr.2021.100711. eCollection 2021 Mar.
8
Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.利用L-[1-¹³C]苯丙氨酸通过指示剂氨基酸氧化法测定枫糖尿症患者的总支链氨基酸需求量。
Am J Physiol Endocrinol Metab. 2004 Jul;287(1):E142-9. doi: 10.1152/ajpendo.00431.2003. Epub 2004 Feb 17.
9
Pregnancy in an adolescent with maple syrup urine disease: Case report.一名患有枫糖尿症的青少年怀孕：病例报告。
Mol Genet Metab Rep. 2021 Mar 26;27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.
10
Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.育龄枫糖尿症女性二十二碳六烯酸状况。
J Inherit Metab Dis. 2010 Apr;33(2):121-7. doi: 10.1007/s10545-010-9066-x. Epub 2010 Mar 9.

引用本文的文献

1
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.妊娠期有机酸尿症：代谢方面的概述
Metabolites. 2023 Apr 4;13(4):518. doi: 10.3390/metabo13040518.
2
Pregnancy in an adolescent with maple syrup urine disease: Case report.一名患有枫糖尿症的青少年怀孕：病例报告。
Mol Genet Metab Rep. 2021 Mar 26;27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.
3
Nutrient management in the intrapartum period in maternal maple syrup urine disease.患有枫糖尿症的产妇产时的营养管理
Mol Genet Metab Rep. 2021 Jan 29;26:100711. doi: 10.1016/j.ymgmr.2021.100711. eCollection 2021 Mar.
4
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.枫糖尿症患者的成功妊娠：病例报告及文献复习。
Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7.

本文引用的文献

1
The management of pregnancy in maple syrup urine disease: experience with two patients.枫糖尿症患者孕期管理：两名患者的经验
JIMD Rep. 2013;10:113-7. doi: 10.1007/8904_2013_212. Epub 2013 Feb 14.
2
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.纵向血浆亮氨酸水平对经典型枫糖尿症患者智力预后的影响。
Pediatr Res. 2006 Jan;59(1):17-20. doi: 10.1203/01.pdr.0000190571.60385.34. Epub 2005 Dec 2.
3
MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY.枫糖尿症，特别涉及饮食疗法。
Pediatrics. 1964 Oct;34:454-72.
4
A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.一种新综合征：与一种异常尿物质相关的进行性家族性婴儿脑功能障碍。
Pediatrics. 1954 Nov;14(5):462-7.
5
Pregnancy in a woman with maple syrup urine disease.患有枫糖尿症的女性怀孕。
J Inherit Metab Dis. 1998 Apr;21(2):89-94. doi: 10.1023/a:1005396823030.
6
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.枫糖尿症：支链氨基酸、氧代酸和羟基酸之间的相互关系；对治疗的影响；与中枢神经系统脱髓鞘的关联。
J Inherit Metab Dis. 1992;15(1):121-35. doi: 10.1007/BF01800354.
7
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
Am J Med Genet. 1992 Nov 15;44(5):641-6. doi: 10.1002/ajmg.1320440523.

枫糖尿症女性成功妊娠：病例报告

Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report.

作者信息

Heiber Stefanie, Zulewski Henryk, Zaugg Marianne, Kiss Caroline, Baumgartner Matthias

机构信息

Division of Nutrition and Dietetics, University Hospital Basel, Basel, Switzerland,

出版信息

JIMD Rep. 2015;21:103-7. doi: 10.1007/8904_2014_401. Epub 2015 Feb 27.

DOI:10.1007/8904_2014_401
PMID:25720565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4470944/
Abstract

We present the positive outcome of a pregnancy in a woman with severe classic maple syrup urine disease (MSUD). Maintaining the maternal plasma levels of leucine between 200 and 300 μmol/L allowed normal development of the foetus. Tolerance of protein and leucine increased continuously from the 16th gestational week until delivery. The patient was able to increase protein and leucine intake from 5 g to nearly 30 g and 300-3,000 mg/day, respectively. Weekly measurement of branched-chain amino acid (BCAA) concentrations and the assessment of dietary intake were used to adjust protein intake. After 41 weeks of pregnancy, she gave birth to a healthy baby girl and was able to breastfeed her daughter for 6 months during which time, the protein and leucine intake were lower than during pregnancy, but higher than with her usual pre-pregnancy diet. The development of the girl is normal at the age of 3 years.

摘要

我们报告了一名患有严重经典型枫糖尿症（MSUD）的女性成功妊娠的案例。将母体血浆亮氨酸水平维持在200至300μmol/L之间可使胎儿正常发育。从妊娠第16周直到分娩，蛋白质和亮氨酸的耐受性持续增加。患者能够将蛋白质和亮氨酸的摄入量分别从5克增加到近30克以及从300毫克/天增加到3000毫克/天。每周测量支链氨基酸（BCAA）浓度并评估饮食摄入量以调整蛋白质摄入量。妊娠41周后，她生下了一个健康的女婴，并能够母乳喂养她的女儿6个月，在此期间，蛋白质和亮氨酸的摄入量低于孕期，但高于孕前的日常饮食。该女孩在3岁时发育正常。