甲基丙二酸血症伴高胱氨酸尿症

定义 英文原文（暂无中文）

A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).

别名

腺苷钴胺素和甲基钴胺素合成联合缺陷

基本事实

遗传方式

常染色体隐性、X 连锁隐性

发病年龄

各年龄段

相关基因 5来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

临床表型 18

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