Bile Acid Synthesis Defect, Congenital, 4 (CBAS4)

先天性胆汁酸合成障碍4型(来自ICD-11)

别称:

Congenital Bile Acid Synthesis Defect 4

Trihydroxycoprostanic Acid in Bile

Cbas4

Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid

Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome

Congenital Bile Acid Synthesis Defect Type 4

Alpha-Methyl-Acyl-Coa Racemase Deficiency

2-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

Basd4

Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid

Bile Acid Synthesis Defect, Congenital, Type 4

Alpha-Methylacyl-Coa Racemase Deficiency

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

胆汁酸合成缺陷，先天性，4型，又称先天性胆汁酸合成缺陷4型，与α-甲基酰基辅酶A反式异构酶缺乏和胆汁酸合成障碍有关，症状包括黄疸、肌肉痉挛和癫痫发作。与胆汁酸合成缺陷，先天性，4型相关的重要基因是AMACR（α-甲基酰基辅酶A反式异构酶）。相关组织包括肝脏和骨髓，相关表型为异常循环酶浓度或活性和癫痫发作。

查看原文参与反馈