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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bile Acid Synthesis Defect, Congenital, 4, also known as congenital bile acid synthesis defect 4, is related to alpha-methylacyl-coa racemase deficiency and disorder of bile acid synthesis, and has symptoms including icterus, muscle spasticity and seizures. An important gene associated with Bile Acid Synthesis Defect, Congenital, 4 is AMACR (Alpha-Methylacyl-CoA Racemase). Affiliated tissues include liver and bone marrow, and related phenotypes are abnormal circulating enzyme concentration or activity and seizure

Related ID：

MALACARDS：BLC009

OMIM：214950

MESH：C535444