Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal (CPT2DLN)

Alias:

Cpt Ii Deficiency, Lethal Neonatal

Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form

Carnitine Palmitoyltransferase Ii Deficiency, Antenatal

Carnitine Palmitoyltransferase Ii Deficiency, Neonatal

Cpt2 Deficiency, Lethal Neonatal

Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form

Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form

Carnitine Palmitoyltransferase 2 Deficiency, Lethal Neonatal

Lethal Neonatal Cpt-Ii Deficiency

Cptii, Lethal Systemic Form

Cpt2, Lethal Systemic Form

Cptii, Neonatal Form

Cpt2, Neonatal Form

Cpt2dln

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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，新生儿致死型，也称为CPT II缺乏症，新生儿致死型，与肉碱棕榈酰转移酶II缺乏症，婴儿型和肉碱棕榈酰转移酶II缺乏症，肌病性，应激诱导型有关，症状包括呼吸暂停、嗜睡和癫痫发作。与肉碱棕榈酰转移酶II缺乏症，新生儿致死型相关的基因是CPT2（肉碱棕榈酰转移酶2）。相关组织包括肾脏和心脏，相关表型是肌红蛋白尿和血浆总肉碱减少。

Related ID：

MALACARDS：CRN302

OMIM：608836

MESH：D008661