Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

婴儿型肉碱棕榈酰转移酶2缺乏症(来自ICD-11)

别称:

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt Ii Deficiency, Infantile

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt Ii Deficiency

Cptii

Cpt2

Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase 2 Deficiency, Infantile

Carnitine Palmitoyltransferase 2 Deficiency

Cptii, Hepatocardiomuscular Form

Cpt Deficiency, Hepatic, Type Ii

Cpt2, Hepatocardiomuscular Form

Cptii, Severe Infantile Form

Cpt2, Severe Infantile Form

Cpt2 Deficiency

Cpt-Ii

Cpt2di

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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

肉碱棕榈酰转移酶II缺乏症，婴儿型，也称为肉碱棕榈酰转移酶II缺乏症，新生儿致死型和肉碱棕榈酰转移酶II缺乏症，肌病型，应激诱导型，其症状包括肌肉痉挛、肌肉僵硬和肌肉疼痛。与肉碱棕榈酰转移酶II缺乏症，婴儿型相关的基因是CPT2（肉碱棕榈酰转移酶2），其相关通路/超级通路包括代谢和脂肪酸代谢。在该疾病的背景下，已提到的药物有（3-羧基-2-（R）-羟基-丙基）三甲基铵和甘油。相关组织包括肝脏和心脏，相关表型为肌肉无力和肌肉疼痛。

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