Research & Literature

[Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].

Li X, Huang Z, Wang H

Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(5)):360-5.

Cholic acid therapy in Zellweger spectrum disorders.

Berendse K, Klouwer FC, Koot BG, et al.

Journal of inherited metabolic disease 2016; (39(6)):859-868 doi:10.1007/s10545-016-9962-9.

Peroxisomal protein PEX13 functions in selective autophagy.

Lee MY, Sumpter R, Zou Z, et al.

EMBO reports 2017; (18(1)):48-60 doi:10.15252/embr.201642443.

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.

Monte MJ, Alonso-Peña M, Briz O, et al.

Journal of hepatology 2017; (66(3)):581-588 doi:10.1016/j.jhep.2016.11.005.

Bile acid analysis in human disorders of bile acid biosynthesis.

Vaz FM, Ferdinandusse S

Molecular aspects of medicine 2017; (56()):10-24 doi:10.1016/j.mam.2017.03.003.

[Acute liver failure related to inherited metabolic diseases in young children].

Dias Costa F, Moinho R, Ferreira S, et al.

Anales de pediatria 2018; (88(2)):69-74 doi:10.1016/j.anpedi.2017.02.012.

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.

Heubi JE, Bove KE, Setchell KDR

Journal of pediatric gastroenterology and nutrition 2017; (65(3)):321-326 doi:10.1097/MPG.0000000000001657.

[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].

Cheng Y, Guo L, Deng M, Song YZ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017; (19(7)):734-740.

Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.

Al-Hussaini AA, Setchell KDR, AlSaleem B, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(6)):613-620 doi:10.1097/MPG.0000000000001734.

[A case of congenital bile acid synthesis disorder type 2 and literature review].

Liu J, Zhou S, Zhou J, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(5)):691-693 doi:10.3760/cma.j.issn.1003-9406.2018.05.016.

Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.

Chen HL, Wu SH, Hsu SH, et al.

Journal of biomedical science 2018; (25(1)):75 doi:10.1186/s12929-018-0475-8.

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Gonzales E, Matarazzo L, Franchi-Abella S, et al.

Orphanet journal of rare diseases 2018; (13(1)):190 doi:10.1186/s13023-018-0920-5.

Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets.

Ahmad O, Nogueira J, Heubi JE, et al.

Journal of the Endocrine Society 2019; (3(2)):397-402 doi:10.1210/js.2018-00314.

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Klouwer FCC, Koot BGP, Berendse K, et al.

Journal of inherited metabolic disease 2019; (42(2)):303-312 doi:10.1002/jimd.12042.

Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.

Zhang MH, Setchell KD, Zhao J, et al.

World journal of gastroenterology 2019; (25(7)):859-869 doi:10.3748/wjg.v25.i7.859.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Mechaussier S, Marlin S, Kaplan J, et al.

Advances in experimental medicine and biology 2019; (1185()):233-238 doi:10.1007/978-3-030-27378-1_38.

Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.

Heubi JE, Setchell KDR

Journal of pediatric gastroenterology and nutrition 2020; (70(4)):423-429 doi:10.1097/MPG.0000000000002618.

Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2.

Sura SR, Germain-Lee EL

International journal of pediatric endocrinology 2020; (2020()):9 doi:10.1186/s13633-020-00079-1.

Severe vitamin deficiencies in pregnancy complicated by progressive familial intrahepatic cholestasis.

Mahle AC, Morris BD, Frazer Z, Novak C

BMJ case reports 2021; (14(3)) doi:10.1136/bcr-2020-240248.

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.

Tang YP, Gong JY, Setchell KDR, et al.

BMC gastroenterology 2021; (21(1)):163 doi:10.1186/s12876-021-01749-x.

Peroxisomal ABC Transporters: An Update.

Tawbeh A, Gondcaille C, Trompier D, Savary S

International journal of molecular sciences 2021; (22(11)) doi:10.3390/ijms22116093.

Cholbam® and Zellweger spectrum disorders: treatment implementation and management.

Anderson JN, Ammous Z, Eroglu Y, et al.

Orphanet journal of rare diseases 2021; (16(1)):388 doi:10.1186/s13023-021-01940-z.

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China.

Zhao J, Setchell KDR, Gong Y, et al.

Orphanet journal of rare diseases 2021; (16(1)):417 doi:10.1186/s13023-021-02041-7.

Fat-soluble vitamin assessment, deficiency and supplementation in infants with cholestasis.

Mancell S, Islam M, Dhawan A, Whelan K

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2022; (35(2)):273-279 doi:10.1111/jhn.12957.

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.

Pietrobattista A, Spada M, Candusso M, et al.

Pediatric transplantation 2022; (26(6)):e14318 doi:10.1111/petr.14318.

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.

Pham AN, Thi KB, Thi MN, et al.

Medicine 2022; (101(25)):e29476 doi:10.1097/MD.0000000000029476.

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.

Kawaguchi K, Imanaka T

Chemical & pharmaceutical bulletin 2022; (70(8)):533-539 doi:10.1248/cpb.c21-01021.

Advances in medical management of acute liver failure in children: promoting native liver survival.

Deep A, Alexander EC, Bulut Y, et al.

The Lancet. Child & adolescent health 2022; (6(10)):725-737 doi:10.1016/S2352-4642(22)00190-0.

Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) Expression.

Tronstad RR, Berland S, Tjora E, et al.

JPGN reports 2022; (3(3)) doi:10.1097/pg9.0000000000000229.

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes.

Jiang C, Okazaki T

Frontiers in cell and developmental biology 2022; (10()):938177 doi:10.3389/fcell.2022.938177.

Odevixibat: an investigational inhibitor of the ileal bile acid transporter (IBAT) for the treatment of biliary atresia.

Laue T, Baumann U

Expert opinion on investigational drugs 2022; (31(11)):1143-1150 doi:10.1080/13543784.2022.2151890.

Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.

Kawai H, Takashima S, Ohba A, et al.

Brain & development 2023; (45(1)):58-69 doi:10.1016/j.braindev.2022.10.001.

Inborn errors of bile acid metabolism in Japan.

Mizuochi T, Takei H, Nittono H, Kimura A

Pediatrics international : official journal of the Japan Pediatric Society 2023; (65(1)):e15490 doi:10.1111/ped.15490.

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

Gardin A, Ruiz M, Beime J, et al.

Orphanet journal of rare diseases 2023; (18(1)):383 doi:10.1186/s13023-023-02984-z.

Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.

McKiernan P, Bernabeu JQ, Girard M, et al.

JHEP reports : innovation in hepatology 2024; (6(1)):100949 doi:10.1016/j.jhepr.2023.100949.

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.

Nittono H, Suzuki M, Suzuki H, et al.

Frontiers in pediatrics 2024; (12()):1385970 doi:10.3389/fped.2024.1385970.

[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review].

Wang CH, Lu M, Zhao J, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2024; (62(9)):877-882 doi:10.3760/cma.j.cn112140-20240415-00269.

Tandem mass spectrometry of serum cholestanoic (C27) acids - Typical concentration ranges and application to the study of peroxisomal biogenesis disorders.

Zhang W, Narvaez Rivas M, Setchell KDR

Journal of mass spectrometry and advances in the clinical lab 2024; (34()):34-43 doi:10.1016/j.jmsacl.2024.10.005.

Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.

Suzuki M, Takei H, Suzuki H, et al.

Molecular genetics and metabolism reports 2024; (41()):101166 doi:10.1016/j.ymgmr.2024.101166.

Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.

Yoldaş Çelik M, Köşeci B, Burgaç E, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(5)):546-550 doi:10.1515/jpem-2024-0454.

Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.

Gürcan Kaya N, Öztürk H, Sarı S, et al.

Journal of paediatrics and child health 2025; (61(7)):1049-1055 doi:10.1111/jpc.70072.

Molecular mechanism of substrate transport by human peroxisomal ABCD3.

Gupta M, Khandelwal NK, Seka DJ, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.05.21.655323.

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.

Polak Y, Kemper EM, Engelen M, et al.

Journal of inherited metabolic disease 2025; (48(4)):e70062 doi:10.1002/jimd.70062.

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.

Clayton PT, Hirachan R, Murphy E

Journal of inherited metabolic disease 2025; (48(5)):e70081 doi:10.1002/jimd.70081.

Molecular mechanism of substrate transport by human peroxisomal ABCD3.

Gupta M, Khandelwal NK, Seka DJ, et al.

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(52)):e2513928122 doi:10.1073/pnas.2513928122.

Diagnostic value of routine biochemical markers for biliary atresia in neonates with cholestasis: a retrospective study.

Liu Z, Jin Y, Sun D, et al.

Translational pediatrics 2026; (15(3)):76 doi:10.21037/tp-2025-aw-755.

Delayed diagnosis of 3β-HSD7 deficiency in adolescence: Two case reports and review of the literature.

Pendleton S, Mostafavi M, Mathew J, et al.

JPGN reports 2026; (7(2)):236-241 doi:10.1002/jpr3.70159.

Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.

Izquierdo-Martínez A, Rubio-Prieto JL, Rodriguez-Rodriguez A, et al.

Clinical biochemistry 2026; (145()):111151 doi:10.1016/j.clinbiochem.2026.111151.

Congenital Bile Acid Synthesis Defect Type 2 Mimicking Biliary Atresia: A Case Report of Delta-4-3-Oxosteroid 5-Beta-Reductase Deficiency in a Two-Month-Old Infant.

Lagrine M, Kaouani D, Elqadiry R, et al.

Cureus 2026; (18(9)):e116257 doi:10.7759/cureus.116257.