Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced (CPT2D)

应激诱发肌病型肉碱棕榈酰转移酶II缺乏症(来自ICD-11)

别称:

Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form

Carnitine Palmitoyltransferase Ii Deficiency, Adult-Onset

Carnitine Palmitoyltransferase Ii Deficiency, Myopathic

Cpt Ii Deficiency, Myopathic

Cpt2 Deficiency, Late-Onset

Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced

Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form

Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset

Cpt Ii Deficiency, Myopathic, Stress-Induced

Cptii, Adult-Onset Form

Cpt2, Adult-Onset Form

Cptii, Myopathic Form

Cpt2, Myopathic Form

Cpt2d

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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

肉毒碱棕榈酰转移酶II缺乏症，肌病型，也称为肉毒碱棕榈酰转移酶II缺乏症，肌病型，与婴儿肉毒碱棕榈酰转移酶II缺乏症和长链酰基辅酶A脱氢酶缺乏症有关，症状包括肌肉痉挛、肌肉僵硬和肌肉痛。与肉毒碱棕榈酰转移酶II缺乏症，肌病型，应激诱导有关的重要基因是CPT2（肉毒碱棕榈酰转移酶2）。在该疾病的背景下，已提到的药物包括甘油和牛肝素。相关组织包括肾脏和骨骼肌，相关表型为肌肉痛和运动引起的肌肉痛。

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