5C53.23
线粒体蛋白质翻译缺陷
Mitochondrial protein translation defects
- 层级
- 6 级
定义
这指的是属于水解酶家族的酶缺陷,特别是那些作用于酸酐以催化物质跨膜运动的酶。
This refers to defects in the enzyme that belongs to the family of hydrolases, specifically those acting on acid anhydrides to catalyse transmembrane movement of substances.
跨章引用 同一概念在其他章节另有编码
索引词 可用于检索该条目的同义词与别名
- 线粒体蛋白质翻译缺陷
- 复合氧化磷酸化缺乏
- COXPD[联合氧化磷酸化缺陷]
- 复合线粒体呼吸链复合体缺乏症
- 呼吸链多重不足
- 复合氧化磷酸化缺陷1型
- COXPD1[复合氧化磷酸化缺陷1型]
- 复合氧化磷酸化缺陷1型引起的肝性脑病
- 致命婴儿进行性肝性脑病
- 复合氧化磷酸化缺陷2型
- COXPD2[复合氧化磷酸化缺陷2型]
- 胼胝体发育不全伴畸形和致命乳酸酸中毒
- 复合氧化磷酸化缺陷3型
- COXPD3[复合氧化磷酸化缺陷3型]
- 复合氧化磷酸化缺陷3型引起的致命线粒体疾病
- 脑病,呼吸衰竭和乳酸酸中毒
- 同心性心肌病,肌张力减退和乳酸性酸中毒
- 复合氧化磷酸化缺陷4型
- COXPD4[复合氧化磷酸化缺陷4型]
- 复合氧化磷酸化缺陷5型
- COXPD5[复合氧化磷酸化缺陷5型]
- 伴乳酸血症和高氨血症的低血压
- 联合氧化磷酸化缺陷症5型
- 复合氧化磷酸化缺陷6型
- COXPD6[复合氧化磷酸化缺陷6型]
- X连锁线粒体脑肌病
- 复合氧化磷酸化缺陷7型
- 线粒体DNA编码蛋白合成缺陷引起的急性婴儿肝功能衰竭
- 脑干-脊髓受累的白质脑病-乳酸升高
- LBSL[脑干-脊髓受累的白质脑病-乳酸升高]
英文词条(29)
- Mitochondrial protein translation defects
- Combined oxidative phosphorylation deficiency
- COXPD - [Combined oxidative phosphorylation deficiency]
- Combined mitochondrial respiratory chain complex deficiency
- Respiratory chain multiple deficiencies
- Combined oxidative phosphorylation deficiency type 1
- COXPD1 - [Combined oxidative phosphorylation deficiency type 1]
- Early fatal progressive hepatoencephalopathy
- Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
- Combined oxidative phosphorylation deficiency type 2
- COXPD2 - [Combined oxidative phosphorylation deficiency type 2]
- Corpus callosum agenesis with dysmorphism and fatal lactic acidosis
- Combined oxidative phosphorylation deficiency type 3
- COXPD3 - [Combined oxidative phosphorylation deficiency type 3]
- Concentric cardiomyopathy, hypotonia and lactic acidosis
- Encephalopathy, respiratory failure and lactic acidosis
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
- Combined oxidative phosphorylation deficiency type 4
- COXPD4 - [Combined oxidative phosphorylation deficiency type 4]
- Combined oxidative phosphorylation deficiency type 5
- COXPD5 - [Combined oxidative phosphorylation deficiency type 5]
- Hypotonia with lactic acidaemia and hyperammonaemia
- Combined oxidative phosphorylation deficiency type 6
- COXPD6- [Combined oxidative phosphorylation deficiency type 6]
- X-linked mitochondrial encephalomyopathy
- Combined oxidative phosphorylation deficiency type 7
- Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect
- Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation
- LBSL - [Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation]
后组配轴 Postcoordination
该条目未定义后组配轴,直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式,不是必填项。