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Bile acid conjugation defect 1(BACD1)

MedGen UID:
1780260
Concept ID:
C5543203
Disease or Syndrome
Synonyms: BACD1; BILE ACID CONJUGATION DEFECT 1
 
Gene (location): BAAT (9q31.1)
 
Monarch Initiative: MONDO:0030991
OMIM®: 619232

Definition

Bile acid conjugation defect-1 (BACD1) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by Setchell et al., 2013). See also familial hypercholanemia (FHCA; 607748), in which patients have increased serum bile levels of conjugated bile acids. [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Liver failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
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).
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.

Professional guidelines

PubMed

Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article

Recent clinical studies

Etiology

Honka H, Bhattacharjee J, Zadeh M, Kohli R, Gastaldelli A, Salehi M
Neurogastroenterol Motil 2024 May;36(5):e14763. Epub 2024 Feb 11 doi: 10.1111/nmo.14763. PMID: 38342974Free PMC Article
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J
Gastroenterol Hepatol 2022 Oct;45(8):585-592. Epub 2021 Dec 20 doi: 10.1016/j.gastrohep.2021.12.005. PMID: 34942279
Betts JW, Roth P, Pattrick CA, Southam HM, La Ragione RM, Poole RK, Schatzschneider U
Metallomics 2020 Oct 21;12(10):1563-1575. doi: 10.1039/d0mt00142b. PMID: 32856674
Jansen PL, Müller M
Can J Gastroenterol 2000 Mar;14(3):233-8. doi: 10.1155/2000/514172. PMID: 10758420
Tazawa Y, Yamada M, Nakagawa M, Konno Y, Tada K
Acta Paediatr Scand 1984 May;73(3):392-7. doi: 10.1111/j.1651-2227.1994.tb17754.x. PMID: 6741539

Diagnosis

Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J
Gastroenterol Hepatol 2022 Oct;45(8):585-592. Epub 2021 Dec 20 doi: 10.1016/j.gastrohep.2021.12.005. PMID: 34942279
Betts JW, Roth P, Pattrick CA, Southam HM, La Ragione RM, Poole RK, Schatzschneider U
Metallomics 2020 Oct 21;12(10):1563-1575. doi: 10.1039/d0mt00142b. PMID: 32856674
Choudhuri S, Klaassen CD
Toxicol Appl Pharmacol 2020 Jul 15;399:115039. Epub 2020 May 11 doi: 10.1016/j.taap.2020.115039. PMID: 32407928
Wang S, Deng Y, Xie X, Ma J, Xu M, Zhao X, Gu W, Hong J, Wang W, Xu G, Ning G, Gu Y, Zhang Y
J Diabetes 2018 Nov;10(11):874-885. Epub 2018 May 28 doi: 10.1111/1753-0407.12771. PMID: 29664215
Batta AK, Salen G
J Chromatogr B Biomed Sci Appl 1999 Feb 19;723(1-2):1-16. doi: 10.1016/s0378-4347(98)00528-3. PMID: 10080627

Therapy

Honka H, Bhattacharjee J, Zadeh M, Kohli R, Gastaldelli A, Salehi M
Neurogastroenterol Motil 2024 May;36(5):e14763. Epub 2024 Feb 11 doi: 10.1111/nmo.14763. PMID: 38342974Free PMC Article
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J
Gastroenterol Hepatol 2022 Oct;45(8):585-592. Epub 2021 Dec 20 doi: 10.1016/j.gastrohep.2021.12.005. PMID: 34942279
Wang S, Deng Y, Xie X, Ma J, Xu M, Zhao X, Gu W, Hong J, Wang W, Xu G, Ning G, Gu Y, Zhang Y
J Diabetes 2018 Nov;10(11):874-885. Epub 2018 May 28 doi: 10.1111/1753-0407.12771. PMID: 29664215
Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Hofmann AF
Arch Intern Med 1999 Dec 13-27;159(22):2647-58. doi: 10.1001/archinte.159.22.2647. PMID: 10597755

Prognosis

Wang S, Deng Y, Xie X, Ma J, Xu M, Zhao X, Gu W, Hong J, Wang W, Xu G, Ning G, Gu Y, Zhang Y
J Diabetes 2018 Nov;10(11):874-885. Epub 2018 May 28 doi: 10.1111/1753-0407.12771. PMID: 29664215
Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article
Kuipers F, Bijleveld CM, Kneepkens CM, van Zanten A, Fernandes J, Vonk RJ
Scand J Gastroenterol 1985 Dec;20(10):1255-61. doi: 10.3109/00365528509089286. PMID: 4095496
Collins DM, Shannon FT, Campbell CB
Aust N Z J Med 1981 Feb;11(1):48-51. doi: 10.1111/j.1445-5994.1981.tb03735.x. PMID: 6941778

Clinical prediction guides

Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J
Gastroenterol Hepatol 2022 Oct;45(8):585-592. Epub 2021 Dec 20 doi: 10.1016/j.gastrohep.2021.12.005. PMID: 34942279
Yan YY, Wang MX, Gong JY, Liu LL, Setchell KDR, Xie XB, Wang NL, Li W, Wang JS
J Pediatr Gastroenterol Nutr 2020 Nov;71(5):e138-e141. doi: 10.1097/MPG.0000000000002862. PMID: 33093374
Betts JW, Roth P, Pattrick CA, Southam HM, La Ragione RM, Poole RK, Schatzschneider U
Metallomics 2020 Oct 21;12(10):1563-1575. doi: 10.1039/d0mt00142b. PMID: 32856674
Wang S, Deng Y, Xie X, Ma J, Xu M, Zhao X, Gu W, Hong J, Wang W, Xu G, Ning G, Gu Y, Zhang Y
J Diabetes 2018 Nov;10(11):874-885. Epub 2018 May 28 doi: 10.1111/1753-0407.12771. PMID: 29664215
Heubi JE, Setchell KD, Jha P, Buckley D, Zhang W, Rosenthal P, Potter C, Horslen S, Suskind D
Hepatology 2015 Jan;61(1):268-74. Epub 2014 Dec 23 doi: 10.1002/hep.27401. PMID: 25163551Free PMC Article

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