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Bile acid malabsorption, primary, 2(PBAM2)

MedGen UID:
1794172
Concept ID:
C5561962
Disease or Syndrome
Synonyms: BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
 
Gene (location): SLC51B (15q22.31)
 
Monarch Initiative: MONDO:0859180
OMIM®: 619481

Definition

Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291). [from OMIM]

Clinical features

From HPO
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Periportal fibrosis
MedGen UID:
337906
Concept ID:
C1849766
Disease or Syndrome
The presence of fibrosis affecting the interlobular stroma of liver.
Prolonged neonatal jaundice
MedGen UID:
347108
Concept ID:
C1859236
Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Copper accumulation in liver
MedGen UID:
910570
Concept ID:
C3672035
Finding
An anomalous build up of copper (Cu) in the liver.
Decreased circulating vitamin D concentration
MedGen UID:
12114
Concept ID:
C0042870
Disease or Syndrome
The concentration of vitamin D in the blood circulation is below the lower limit of normal.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
Concept ID:
C0151904
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
Concept ID:
C0151905
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Decreased circulating chenodeoxycholic acid concentration
MedGen UID:
1814222
Concept ID:
C5676649
Finding
A reduced concentration of chenodeoxycholic acid in the blood circulation.
Decreased circulating vitamin E concentration
MedGen UID:
1853278
Concept ID:
C5779643
Finding
A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.
Reduced circulating vitamin A concentration
MedGen UID:
1853267
Concept ID:
C5848160
Finding
Concentration of vitamin A below the lower limit of normal in the blood circulation.

Professional guidelines

PubMed

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Donato LJ, Lueke A, Kenyon SM, Meeusen JW, Camilleri M
Clin Biochem 2018 Feb;52:106-111. Epub 2017 Oct 16 doi: 10.1016/j.clinbiochem.2017.10.008. PMID: 29051033

Recent clinical studies

Etiology

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Jackson A, Lalji A, Kabir M, Muls A, Gee C, Vyoral S, Shaw C, Andreyev HJN
Clin Med (Lond) 2017 Oct;17(5):412-418. doi: 10.7861/clinmedicine.17-5-412. PMID: 28974589Free PMC Article
Orekoya O, McLaughlin J, Leitao E, Johns W, Lal S, Paine P
Clin Med (Lond) 2015 Jun;15(3):252-7. doi: 10.7861/clinmedicine.15-3-252. PMID: 26031975Free PMC Article
Gupta A, Muls AC, Lalji A, Thomas K, Watson L, Shaw C, Andreyev HJ
Support Care Cancer 2015 Oct;23(10):2881-90. Epub 2015 Feb 20 doi: 10.1007/s00520-015-2653-5. PMID: 25693765
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Diagnosis

Jackson A, Lalji A, Kabir M, Muls A, Gee C, Vyoral S, Shaw C, Andreyev HJN
Clin Med (Lond) 2017 Oct;17(5):412-418. doi: 10.7861/clinmedicine.17-5-412. PMID: 28974589Free PMC Article
Orekoya O, McLaughlin J, Leitao E, Johns W, Lal S, Paine P
Clin Med (Lond) 2015 Jun;15(3):252-7. doi: 10.7861/clinmedicine.15-3-252. PMID: 26031975Free PMC Article
Gupta A, Muls AC, Lalji A, Thomas K, Watson L, Shaw C, Andreyev HJ
Support Care Cancer 2015 Oct;23(10):2881-90. Epub 2015 Feb 20 doi: 10.1007/s00520-015-2653-5. PMID: 25693765
Vítek L
Inflamm Bowel Dis 2015 Feb;21(2):476-83. doi: 10.1097/MIB.0000000000000193. PMID: 25248001
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Therapy

Larsen HM, Borre M, Christensen P, Mohr Drewes A, Laurberg S, Krogh K, Fassov J
Acta Oncol 2019 May;58(5):776-781. Epub 2019 Jan 30 doi: 10.1080/0284186X.2018.1562211. PMID: 30698052
Jackson A, Lalji A, Kabir M, Muls A, Gee C, Vyoral S, Shaw C, Andreyev HJN
Clin Med (Lond) 2017 Oct;17(5):412-418. doi: 10.7861/clinmedicine.17-5-412. PMID: 28974589Free PMC Article
Orekoya O, McLaughlin J, Leitao E, Johns W, Lal S, Paine P
Clin Med (Lond) 2015 Jun;15(3):252-7. doi: 10.7861/clinmedicine.15-3-252. PMID: 26031975Free PMC Article

Prognosis

Orekoya O, McLaughlin J, Leitao E, Johns W, Lal S, Paine P
Clin Med (Lond) 2015 Jun;15(3):252-7. doi: 10.7861/clinmedicine.15-3-252. PMID: 26031975Free PMC Article
Vítek L
Inflamm Bowel Dis 2015 Feb;21(2):476-83. doi: 10.1097/MIB.0000000000000193. PMID: 25248001
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

Clinical prediction guides

Orekoya O, McLaughlin J, Leitao E, Johns W, Lal S, Paine P
Clin Med (Lond) 2015 Jun;15(3):252-7. doi: 10.7861/clinmedicine.15-3-252. PMID: 26031975Free PMC Article
Gracie DJ, Kane JS, Mumtaz S, Scarsbrook AF, Chowdhury FU, Ford AC
Neurogastroenterol Motil 2012 Nov;24(11):983-e538. Epub 2012 Jul 5 doi: 10.1111/j.1365-2982.2012.01953.x. PMID: 22765392

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