中风与神经疾病杂志2025，Vol.42Issue(12)：1136-1140,5.DOI:10.19845/j.cnki.zfysjjbzz.2025.0205
以言语障碍为主要表现的成人甲基丙二酸血症合并膜性肾病1例报告
Adult-onset methylmalonic acidemia with speech and language impairment as the main manifestation comorbid with membranous nephropathy:A case report
摘要
Abstract
Methylmalonic acidemia(MMA)is a rare autosomal recessive disorder,among which MMA type cblC is the most common type.MMA is most commonly observed in childhood and is relatively rare in adulthood.Since this dis-ease has highly heterogeneous clinical manifestations with a lack of specificity,it may lead to misdiagnosis and missed di-agnosis in clinical practice.This article reports a case of adult-onset MMA type cblC comorbid with membranous nephropa-thy with speech and language impairment as the main manifestation,in order to provide a reference for clinical diagnosis and treatment.关键词
甲基丙戊二酸血症/言语障碍/膜性肾病Key words
Methylmalonic acidemia/Speech and language impairment/Membranous nephropathy分类
医药卫生引用本文复制引用
王媛,衣香明,范雪丽..以言语障碍为主要表现的成人甲基丙二酸血症合并膜性肾病1例报告[J].中风与神经疾病杂志,2025,42(12):1136-1140,5.基金项目
国家自然青年科学基金项目(81701192) （81701192）
