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Thus, there is the opportunity for treatment by \u2018product replacement\u2019. One of the disorders in the pathways for the synthesis of bile acids from cholesterol, 3\u03b2\u2010hydroxy\u2010\u03945\u2010C27\u2010steroid dehydrogenase deficiency, causes cholestatic liver disease in infancy that can be treated very effectively with chenodeoxycholic acid (CDCA) and\/or cholic acid (CA). There are several other enzyme deficiencies that can cause liver disease in infancy that improve with CDCA or CA or both (alongside a reduction of abnormal bile acids or alcohols); however, individuals with the same gene variant(s) may remain asymptomatic or have transient liver dysfunction that resolves spontaneously. In some disorders, the more usual presentation is with neurological disease later in childhood or in adolescence or adult life, for example, cerebrotendinous xanthomatosis (CTX), \u03b1\u2010methylacyl\u2010CoA racemase deficiency, and oxysterol 7\u03b1\u2010hydroxylase deficiency. Treatment with CDCA has been dramatically effective in the neurological disease of CTX. In the disorders of peroxisome biogenesis, liver disease is a part of the clinical picture although neurological symptoms tend to be predominant. Treatment with CDCA and CA (or CA alone) leads to a reduction in the levels of C27 bile acids. Some trials suggest this treatment leads to significant improvement in clinical status and liver function tests; others do not. Defects in individual peroxisomal enzymes and transporters vary in their clinical presentations. Treatment of acyl\u2010CoA oxidase 2 deficiency with ursodeoxycholic acid is discussed.<\/jats:p>","DOI":"10.1002\/jimd.70081","type":"journal-article","created":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T05:49:56Z","timestamp":1755928196000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7592-4302","authenticated-orcid":false,"given":"Peter T.","family":"Clayton","sequence":"first","affiliation":[{"name":"Inborn Errors of Metabolism, Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Hirachan","sequence":"additional","affiliation":[{"name":"Chemical Pathology Great Ormond Street Hospital for 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