腺苷一磷酸脱氨酶缺乏症
Adenosine monophosphate deaminase deficiency
ORPHA:45疾病
定义 英文原文（暂无中文）
A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
别名
肌腺苷酸脱氨酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AMPD1 | adenosine monophosphate deaminase 1 | Disease-causing germline mutation(s) in |
| AMPD3 | adenosine monophosphate deaminase 3 | Disease-causing germline mutation(s) in |
临床表型 7
极常见 99–80%5
- 运动诱发的肌肉疲劳 HP:0009020
- 运动诱发的肌肉痛 HP:0003738
- 四肢肌肉无力 HP:0003690
- 肌肉痉挛 HP:0003394
- 肌痛 HP:0003326
排除 0%2
- 运动后肌酸激酶升高 HP:0008331
- 循环乳酸水平升高 HP:0002151
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）