Carnitine Deficiency, Systemic Primary (CDSP)

系统性原发性肉碱缺乏症(来自ICD-11)

别称:

Systemic Primary Carnitine Deficiency

Renal Carnitine Transport Defect

Cdsp

Systemic Carnitine Deficiency

Carnitine Uptake Defect

Cud

Deficiency of Plasma-Membrane Carnitine Transporter

Carnitine Transporter Deficiency

Carnitine Uptake Deficiency

Systemic Primary Carnitine Deficiency Disease

Carnitine Deficiency, Primary

Primary Carnitine Deficiency

Carnitine Transporter Defect

Spcd

Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine

Carnitine Transporter, Plasma-Membrane, Deficiency of

Carnitine Transport Defect

Scd

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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

肉碱缺乏症，系统性原发性，也称为系统性原发性肉碱缺乏症，与腹部肥胖-代谢综合征1和高同型半胱氨酸血症有关，症状包括肌肉无力。与肉碱缺乏症，系统性原发性相关的基因是SLC22A5（溶质载体家族22成员5），其相关通路/超级通路包括代谢和脂肪酸代谢。在该疾病的背景下提到了奎尼丁和右美沙芬。附属组织包括心脏和骨骼肌，相关表型为肌肉无力和肝肿大。

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