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Inborn disorder of bile acid synthesis

MedGen UID:
98324
•Concept ID:
C0400973
•
Disease or Syndrome
Synonyms: Disorder of bile acid synthesis; Inborn Errors of Bile Acid Synthesis
SNOMED CT: BASD - Bile acid synthetic defect (235915002); Bile acid synthetic defect (235915002); Bile acid synthesis disorder (235915002); Synthetic defect of bile acids (235915002); Inborn error of bile acid synthesis (235915002); Disorder of bile acid synthesis (235915002)
 
Monarch Initiative: MONDO:0019218
Orphanet: ORPHA79168

Definition

A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of bile acid synthesis

Professional guidelines

PubMed

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH
Clin Chim Acta 2023 Jan 15;539:170-174. Epub 2022 Dec 16 doi: 10.1016/j.cca.2022.12.011. PMID: 36529270Free PMC Article
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):285-94. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31347. PMID: 23042642Free PMC Article

Recent clinical studies

Etiology

Adult onset of genetic disorders in bile acid transport in the liver.
Miller GC, Clouston AD
Hum Pathol 2020 Feb;96:2-7. Epub 2019 Dec 23 doi: 10.1016/j.humpath.2019.10.006. PMID: 31669892
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A
Parkinsonism Relat Disord 2019 Jan;58:12-16. Epub 2018 Jul 19 doi: 10.1016/j.parkreldis.2018.07.006. PMID: 30054180
Review article: therapeutic bile acids and the risks for hepatotoxicity.
Ashby K, Navarro Almario EE, Tong W, Borlak J, Mehta R, Chen M
Aliment Pharmacol Ther 2018 Jun;47(12):1623-1638. Epub 2018 Apr 27 doi: 10.1111/apt.14678. PMID: 29701277
Peroxisomal diseases.
Palosaari PM, Kilponen JM, Hiltunen JK
Ann Med 1992 Jun;24(3):163-6. doi: 10.3109/07853899209147814. PMID: 1627308
Peroxisomal disorders: a newly recognised group of genetic diseases.
Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Tager JM
Eur J Pediatr 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734. PMID: 3514227

Diagnosis

Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Peroxisomal diseases.
Palosaari PM, Kilponen JM, Hiltunen JK
Ann Med 1992 Jun;24(3):163-6. doi: 10.3109/07853899209147814. PMID: 1627308
Biochemical abnormalities in cerebrotendinous xanthomatosis.
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043
Peroxisomal disorders: a newly recognised group of genetic diseases.
Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Tager JM
Eur J Pediatr 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734. PMID: 3514227
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225

Therapy

Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE
Clin Liver Dis 2018 Nov;22(4):671-687. Epub 2018 Aug 22 doi: 10.1016/j.cld.2018.06.006. PMID: 30266156
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
Nwokoro NA, Hyde B, Mulvihill JJ
Am J Med Genet 1994 May 1;50(4):375-6. doi: 10.1002/ajmg.1320500415. PMID: 8209919
Biochemical abnormalities in cerebrotendinous xanthomatosis.
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043
Medical management of the infant or child with chronic liver disease.
Sokol RJ
Semin Liver Dis 1987 May;7(2):155-67. doi: 10.1055/s-2008-1040573. PMID: 3112945
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225

Prognosis

Adult onset of genetic disorders in bile acid transport in the liver.
Miller GC, Clouston AD
Hum Pathol 2020 Feb;96:2-7. Epub 2019 Dec 23 doi: 10.1016/j.humpath.2019.10.006. PMID: 31669892
Review article: therapeutic bile acids and the risks for hepatotoxicity.
Ashby K, Navarro Almario EE, Tong W, Borlak J, Mehta R, Chen M
Aliment Pharmacol Ther 2018 Jun;47(12):1623-1638. Epub 2018 Apr 27 doi: 10.1111/apt.14678. PMID: 29701277
Inborn errors of bile acid metabolism.
Heubi JE, Setchell KD, Bove KE
Semin Liver Dis 2007 Aug;27(3):282-94. doi: 10.1055/s-2007-985073. PMID: 17682975
Neonatal cholestasis.
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579
Intracellular cholestatic syndromes of infancy.
Freese D
Semin Liver Dis 1982 Nov;2(4):225-70. PMID: 6763341

Clinical prediction guides

Plasma fetal bile acids 7α-hydroxy-3-oxochol-4-en-24-oic acid and 3-oxachola-4,6-dien-24-oic acid indicate severity of liver cirrhosis.
Mocan T, Kang DW, Molloy BJ, Jeon H, Spârchez ZA, Beyoğlu D, Idle JR
Sci Rep 2021 Apr 15;11(1):8298. doi: 10.1038/s41598-021-87921-5. PMID: 33859329Free PMC Article
Adult onset of genetic disorders in bile acid transport in the liver.
Miller GC, Clouston AD
Hum Pathol 2020 Feb;96:2-7. Epub 2019 Dec 23 doi: 10.1016/j.humpath.2019.10.006. PMID: 31669892
Clinical Spectrum of Inherited Disorders of Metabolism.
Ganesh R, Abinesh R, Janakiraman L
Indian J Pediatr 2019 Oct;86(10):892-896. Epub 2019 Jun 20 doi: 10.1007/s12098-019-02998-1. PMID: 31222555
Review article: therapeutic bile acids and the risks for hepatotoxicity.
Ashby K, Navarro Almario EE, Tong W, Borlak J, Mehta R, Chen M
Aliment Pharmacol Ther 2018 Jun;47(12):1623-1638. Epub 2018 Apr 27 doi: 10.1111/apt.14678. PMID: 29701277
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R
J Inherit Metab Dis 2018 May;41(3):457-477. Epub 2018 Mar 19 doi: 10.1007/s10545-017-0126-3. PMID: 29556840

Recent systematic reviews

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
van Karnebeek CD, Stockler S
Mol Genet Metab 2012 Mar;105(3):368-81. Epub 2011 Nov 30 doi: 10.1016/j.ymgme.2011.11.191. PMID: 22212131

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