以便秘伴体重下降为首发症状的甲基丙二酸血症1例并文献分析

doi:10.3760/cma.j.cn441417-20240726-04033

国际医药卫生导报 ›› 2025, Vol. 31 ›› Issue (4): 692-695.DOI: 10.3760/cma.j.cn441417-20240726-04033

以便秘伴体重下降为首发症状的甲基丙二酸血症1例并文献分析

蒋萌赵静如刘惠刘庆新

滨州医学院附属医院神经内科，滨州 256600

收稿日期:2024-07-26 出版日期:2025-02-15 发布日期:2025-02-25
通讯作者: 刘庆新，Email：neurolqx@163.com
基金资助:
山东省自然科学基金（ZR2021MH206）；山东省医药卫生科技发展计划（2017WS157）；滨州医学院科研计划与科研启动基金（BY2019KJ07）

One case of methylmalonic acidemia with constipation and weight loss as first symptoms and literature analysis

Jiang Meng, Zhao Jingru, Liu Hui, Liu Qingxin

Department of Neurology, Binzhou Medical University Hospital, Binzhou 256600, China

Received:2024-07-26 Online:2025-02-15 Published:2025-02-25
Contact: Liu Qingxin, Email: neurolqx@163.com
Supported by:
Natural Science Foundation in Shandong Province (ZR2021MH206); Health Science and Technology Development Program in Shandong Province (2017WS157); Research Plan and Research Start-up Fund of Binzhou Medical University (BY2019KJ07)

摘要/Abstract

摘要：

甲基丙二酸血症是一种甲基丙二酰辅酶A变位酶代谢异常的常染色体隐形遗传病，目前对该病的报道主要以神经病变或代谢性酸中毒为首发症状。该文对滨州医学院附属医院2023年9月18日1例以便秘为首发症状的甲基丙二酸血症患者进行报道并文献分析，希望可以为尽早发现并治疗甲基丙二酸血症提供帮助。

关键词:

Methylmalonic acidemia, , Hypercysteinemia, , Constipation, , Peripheral nerve damage, , Vitamin B12

Abstract:

Methylmalonic acidemia is an autosomal recessive genetic disease with abnormal methylmalonyl-CoA mutase metabolism. At present, neuropathy or metabolic acidosis have been reported as the first symptoms of the disease. This article reports and analyzes one case of methylmalonic acidemia with constipation as the first symptoms treated at Binzhou Medical University Hospital on September 18, 2023, hoping to provide help for early detection and treatment of methylmalonic acidemia.

Key words:

蒋萌赵静如刘惠刘庆新.

以便秘伴体重下降为首发症状的甲基丙二酸血症1例并文献分析 [J]. 国际医药卫生导报, 2025, 31(4): 692-695.

Jiang Meng, Zhao Jingru, Liu Hui, Liu Qingxin.

One case of methylmalonic acidemia with constipation and weight loss as first symptoms and literature analysis [J]. International Medicine and Health Guidance News, 2025, 31(4): 692-695.

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以便秘伴体重下降为首发症状的甲基丙二酸血症1例并文献分析

One case of methylmalonic acidemia with constipation and weight loss as first symptoms and literature analysis

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