Carnitine Palmitoyltransferase I Deficiency (CPT1AD)

Alias:

Carnitine Palmitoyl Transferase 1a Deficiency

Cpt1a Deficiency

Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

Hepatic Carnitine Palmitoyl Transferase I Deficiency

Carnitine Palmitoyl Transferase Ia Deficiency

L-Cpt1 Deficiency

Cpt I Deficiency

Carnitine Palmitoyltransferase Ia Deficiency

Carnitine Palmitoyltransferase 1a Deficiency

Cpt Deficiency, Hepatic, Type Ia

Cpt Deficiency, Hepatic, Type I

L-Cpti Deficiency

Liver Form of Carnitine Palmitoyltransferase Deficiency

Hepatic Carnitine Palmitoyltransferase 1 Deficiency

Hepatic Cpt Deficiency Type I

Cpt 1a Deficiency

Cpt-I Deficiency

Cpt1ad

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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I缺陷，也称为肉毒碱棕榈酰转移酶1a缺陷，与代谢功能障碍相关的脂肪肝病和有机酸血症有关，症状包括腹泻、嗜睡和癫痫发作。与肉毒碱棕榈酰转移酶I缺陷有关的重要基因是CPT1A（肉毒碱棕榈酰转移酶1A），其相关通路/超级通路包括代谢和脂肪酸代谢。相关组织包括肝脏和骨骼肌，相关表型为癫痫发作和肌张力低下。

Related ID：

MALACARDS：CRN295

OMIM：255120