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 43L2

2024/10 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。

• 2026-09综述开放获取
  Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management
  Genes · DOI · Europe PMC
• 2026-09病例报告开放获取
  Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result
  International journal of neonatal screening · DOI · Europe PMC
• 2026-09开放获取
  Adherence to Long-Acting Injectable Risperidone ISM in a Community Psychiatric Setting: A Real-World Observational Study
  European psychiatry : the journal of the Association of European Psych
• 2026-09开放获取
  Neuropsychiatric Manifestations in Methylmalonic Acidemia and Homocystinuria of Adult Presentation. A Case Report
  European psychiatry : the journal of the Association of European Psych
• 2026-08开放获取
  Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series
  Journal of clinical immunology · DOI · Europe PMC
• 2026-08开放获取
  The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
  International journal of neonatal screening · DOI · Europe PMC
• 2026-08
  Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity
  Prenatal diagnosis · DOI · Europe PMC
• 2026-07开放获取
  Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect
  Frontiers in nutrition · DOI · Europe PMC
• 2026-07综述开放获取
  Diagnosis and treatment of vitamin B12 deficiency in children
  Frontiers in nutrition · DOI · Europe PMC
• 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
• 2026-04综述开放获取
  Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians
  Pregnancy (Hoboken, N.J.) · 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 · 被引 1 · 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 4 · 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 · 被引 2 · 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）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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