不伴同型半胱氨酸尿症的甲基丙二酸血症

定义

甲基丙二酸血症是一种先天性维生素B12代谢异常，其特征是由于线粒体酶甲基丙二酰辅酶A变位酶功能下降引起的胃肠道和神经代谢表现。

别名

甲基丙二酸尿症不伴高胱氨酸尿症

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁显性

发病年龄

各年龄段

患病率

1-9 / 100 000（Europe）

近两年的全球研究 34L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-05综述病例报告开放获取
  A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review
  Medicine · DOI · Europe PMC
• 2026-04开放获取
  Sublingual methylcobalamin treatment in infants with prolonged jaundice due to vitamin B12 deficiency
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-03病例报告开放获取
  Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report
  Frontiers in psychiatry · DOI · Europe PMC
• 2026-01病例报告开放获取
  Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect
  Frontiers in cardiovascular medicine · DOI · Europe PMC
• 2025-12开放获取
  Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation
  Journal of translational medicine · DOI · Europe PMC
• 2025-12
  Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023)
  Molecular genetics and metabolism · DOI · Europe PMC
• 2025-10病例报告开放获取
  Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI
  Frontiers in radiology · DOI · Europe PMC
• 2025-09综述
  The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications
  Physiological reviews · 被引 3 · DOI · Europe PMC
• 2025-09开放获取
  Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment
  International journal of neonatal screening · DOI · Europe PMC
• 2025-08开放获取
  Analysis of hydroxocobalamin dosage in patients with CblC deficiency
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2025-08开放获取
  Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012-2023
  Orphanet journal of rare diseases · 被引 3 · DOI · Europe PMC
• 2025-07综述开放获取
  Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease
  Metabolites · 被引 6 · DOI · Europe PMC
• 2025-06开放获取
  Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
  NPJ digital medicine · 被引 9 · DOI · Europe PMC
• 2025-06
  Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type
  Molecular genetics and metabolism · 被引 1 · DOI · Europe PMC
• 2025-06综述开放获取
  Advances in Complement Inhibitory Strategies for the Treatment of Glomerular Disease: A Rapidly Evolving Field
  Journal of clinical medicine · 被引 1 · DOI · Europe PMC
• 2025-05综述开放获取
  From Nutrient to Nanocarrier: The Multifaceted Role of Vitamin B12 in Drug Delivery
  International journal of molecular sciences · 被引 5 · DOI · Europe PMC
• 2025-05综述病例报告开放获取
  Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review
  Genes · DOI · Europe PMC
• 2025-05
  New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development
  Differentiation; research in biological diversity · DOI · Europe PMC
• 2025-05开放获取
  Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs
  Metabolites · 被引 1 · DOI · Europe PMC
• 2025-04综述开放获取
  Updated Gene Therapy for Renal Inborn Errors of Metabolism
  Genes · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

中国境外的在招试验 1L2

共 2 项。

• 尚未开始招募NCT07163364
  A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
  III 期 · 干预性 · 2025/08/31CSPC ZhongQi Pharmaceutical Technology Co., Ltd.
• 招募中NCT04880356
  Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
  观察性 · 2021/03/01Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
  意大利

外部标识与链接