2.1.h

Disorders of bile acid metabolism

  • Cholesterol 7-alpha-hydroxylase deficiency
  • 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency (Congenital bile acid synthesis defect type 1)
  • Delta-4-3-oxosteroid 5-beta-reductase deficiency (Congenital bile acid synthesis defect type 2)
  • Oxysterol 7-alpha-hydroxylase deficiency (Congenital bile acid synthesis defect type 3; autosomal recessive spastic paraplegia type 5A)
  • Sterol 27-hydroxylase deficiency (Cerebrotendinous xanthomatosis)
  • PMP70 deficiency (Congenital bile acid synthesis defect type 5)
  • Alpha-methylacyl-CoA racemase deficiency – AMACR deficiency (Congenital bile acid synthesis defect type 4)
  • Peroxisomal branched-chain acyl-CoA oxidase deficiency (Congenital bile acid synthesis defect type 6)
  • Bile acid-CoA:amino acid N-acyltransferase deficiency
  • Bile acid CoA ligase deficiency
  • Phosphatidylserine translocator deficiency (Progressive familial intrahepatic cholestasis type 1, severe; benign recurrent intrahepatic cholestasis type 1, milder)
  • Bile salt export pump deficiency (Progressive familial intrahepatic cholestasis type 2, severe; benign recurrent intrahepatic cholestasis type 2, milder)
  • Phosphatidylcholine translocator deficiency (Progressive familial intrahepatic cholestasis type 3, severe; low phospholipid-associated cholelithiasis, milder)
  • Bile acid receptor deficiency (Progressive familial intrahepatic cholestasis type 5)
  • Apical bile salt transporter deficiency (Primary bile acid malabsorption)
  • Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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