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中文Bile Acid Synthesis Defect, Congenital, 4 (CBAS4)
Alias:
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
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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。
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