Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases of small intestine
DA96 Intestinal malabsorption or protein-losing enteropathy
H01935 Familial hypercholanemia
Qiu JW, Deng M, Cheng Y, Atif RM, Lin WX, Guo L, Li H, Song YZ
Title
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.