Butyrylcholinesterase Deficiency (BCHED)

丁酰胆碱酯酶缺乏症(来自ICD-11)

别称:

Pseudocholinesterase Deficiency

Suxamethonium Sensitivity

Postanesthetic Apnea

Acholinesterasemia

Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type

Deficiency of Butyrylcholinesterase

Bched

Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type

Apnea, Postanesthetic, Susceptibility to, Due to Bche Deficiency

Fluoride-Resistant Hypocholinesterasemia Japanese Type

Apnea, Postanesthetic Due to Bche Deficiency

Deficiency of Butyrylcholine Esterase

Pseudocholinesterase E1 Deficiency

Cholinesterase Ii Deficiency

Succinylcholine Sensitivity

Apnea, Postanesthetic

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

但是酰胆碱酯酶缺乏症，也称为假胆碱酯酶缺乏症，与舞蹈病、良性遗传性婴儿呼吸暂停有关，症状包括呼吸暂停。与但是酰胆碱酯酶缺乏症有关的重要基因是BCHE（但是酰胆碱酯酶）。在该疾病的背景下提到了药物Pharmaceutical Solutions和Succinylcholine。附属组织包括肝脏和肾脏，相关表型为异常循环酶浓度或活性和呼吸衰竭。

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