| H01016 | |
| H number | H01016 |
| 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 |
| Network | - |
| Gene | (PBAM1) SLC10A2 [HSA:6555] [KO:K14342] (PBAM2) SLC51B [HSA:123264] [KO:K14361] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:19426836 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 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 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 |