同型半胱氨酸血症不伴甲基丙二酸尿症

定义 英文原文（暂无中文）

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).

别名

功能性甲硫氨酸合成缺乏症

基本事实

遗传方式

常染色体隐性

发病年龄

各年龄段

患病率

<1 / 1 000 000

相关基因 3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 31

近两年的全球研究 182L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。本病的检索词较宽泛，命中数可能偏高，请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

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外部标识与链接