Bile acid synthesis defect, congenital, 4

Other Names:

CBAS4; Cholestasis, intrahepatic, with defective conversion of; Trihydroxycoprostanic acid to cholic acid; Trihydroxycoprostanic acid in bile

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed Abnormality of the coagulation cascade Autosomal recessive inheritance High liver enzymes Faltering weight Fat malabsorption Liver failure Enlarged liver High blood bilirubin levels Prolonged yellowing of skin in newborn Neonatal onset Intrahepatic cholestasis

Treatment

cholic acid (Brand name: Cholbam) FDA-approved indication: Treatment of bile acid synthesis disorders due to single  defects and as adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat soluble vitamin absorption.

Diagnosis

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

NIH genetic and rare disease info

• NIH info on Bile acid synthesis defect, congenital, 4

Bile acid synthesis defect, congenital, 4 is a rare disease.