发育医学电子杂志 Vol. 13 391-394
临床遗传
综述
以糖尿病酮症酸中毒为表现的甲基丙二 酸血症研究进展
史春花 陈德鸿 李育霖 邹卉
（济南市妇幼保健院 儿科，山东 济南 250000）
Research progress of methylmalonic acidemia presenting as diabetic ketoacidosis
Shi Chunhua, Chen Dehong, Li Yulin, et al
(Department of Pediatric, Jinan Maternity and Child Care Hospital, Shandong, Jinan 250000, China)
摘要 【摘要】 甲基丙二酸血症（methylmalonic acidemia，MMA）又称甲基丙二酸尿症，是我国常染色体隐性遗传有机酸代谢病中最常见的疾病。临床中 MMA 常见临床表现包括进食困难、反复呕吐、全身肌张力减 退、运动障碍、嗜睡、神经行为异常、低血糖、酸中毒等症状，但以高血糖为临床表现较为少见，以糖尿病 酮症酸中毒为表现者更为罕见，临床中容易误诊及延误治疗。因此，详细描述以糖尿病酮症酸中毒为临 床表现的 MMA 有助于鉴别诊断，明确治疗方案，防止误诊及延误治疗。
关键词:
甲基丙二酸血症
高血糖
糖尿病酮症酸中毒
鉴别诊断
儿童
Abstract: 【Abstract】 Methylmalonic acidemia(MMA), also known as methylmalonic aciduria, is the most common disease among autosomal recessive organic acid metabolism disorders in China. The common clinical manifestations of MMA include difficulties in eating, repeated vomiting, generalized hypotonia, movement disorders, drowsiness, neurological abnormalities, hypoglycemia, acidosis, etc. However, hyperglycemia is a relatively rare manifestation , and cases presenting as diabetic ketoacidosis are even rarer. In clinical practice, such cases are prone to misdiagnosis and delayed treatment. Therefore, detailed description of MMA presenting as diabetic ketoacidosis can help in differential diagnosis, guide treatment plans, and prevent misdiagnosis and delayed treatment.
Key words:
Methylmalonic acidemia
Hyperglycemia
Diabetic ketoacidosis
Antidiastole;
Child
收稿日期: 2024-09-24
发布日期: 2025-10-01
通讯作者:
邹卉
E-mail: zouhui819@163.com
引用本文:
史春花 陈德鸿 李育霖 邹卉. 以糖尿病酮症酸中毒为表现的甲基丙二 酸血症研究进展 [J]. 发育医学电子杂志, 2025, 13(5): 391-394.
Research progress of methylmalonic acidemia presenting as diabetic ketoacidosis . Journal of Developmental Medicine(Electronic Version), 2025, 13(5): 391-394.
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