KEGG   DISEASE: Primary bile acid malabsorption
Entry
H01016                      Disease                                
Name
Primary bile acid malabsorption
Description
This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption (PBAM).
Category
Digestive system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Gastrointestinal diseases
   H01016  Primary bile acid malabsorption
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
    H01016  Primary bile acid malabsorption
Related
pathway
hsa04976  Bile secretion
Gene
(PBAM1) SLC10A2 [HSA:6555] [KO:K14342]
(PBAM2) SLC51B [HSA:123264] [KO:K14361]
Comment
FGF19, produced in the ileum in response to bile acid absorption, regulates hepatic bile acid synthesis.
Other DBs
ICD-11: DA96.02
MeSH: C567652
OMIM: 613291 619481
Reference
  Authors
Walters JR, Tasleem AM, Omer OS, Brydon WG, Dew T, le Roux CW
  Title
A new mechanism for bile acid diarrhea: defective feedback inhibition of bile acid biosynthesis.
  Journal
Clin Gastroenterol Hepatol 7:1189-94 (2009)
DOI:10.1016/j.cgh.2009.04.024
Reference
PMID:9109432 (SLC10A2)
  Authors
Oelkers P, Kirby LC, Heubi JE, Dawson PA
  Title
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
  Journal
J Clin Invest 99:1880-7 (1997)
DOI:10.1172/JCI119355
Reference
PMID:28898457 (SLC51B)
  Authors
Sultan M, Rao A, Elpeleg O, Vaz FM, Abu-Libdeh B, Karpen SJ, Dawson PA
  Title
Organic solute transporter-beta (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
  Journal
Hepatology 68:590-598 (2018)
DOI:10.1002/hep.29516
LinkDB

» Japanese version

DBGET integrated database retrieval system