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Mutations in\n                    <jats:italic>BAAT<\/jats:italic>\n                    cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat\u2010soluble vitamin deficiency. However, several clinical features of\n                    <jats:italic>BAAT<\/jats:italic>\n                    deficiency cannot be fully explained by impaired conjugation alone, suggesting the presence of broader metabolic disturbances. In this study, we analyzed serum bile acid and intermediate profiles in a Japanese patient with genetically confirmed\n                    <jats:italic>BAAT<\/jats:italic>\n                    deficiency and identified a marked elevation of 7\u03b1\u2010hydroxy\u20103\u2010oxo\u20104\u2010cholestenoic acid (7\u2010HOCA), a key intermediate in bile acid synthesis. To investigate the metabolic consequences of\n                    <jats:italic>BAAT<\/jats:italic>\n                    loss, we generated a hepatic\n                    <jats:italic>Baat<\/jats:italic>\n                    knockdown mouse model using adeno\u2010associated virus serotype 8\u2013mediated delivery of Nme2Cas9 and\n                    <jats:italic>Baat<\/jats:italic>\n                    \u2010targeting sgRNA. This model faithfully recapitulated the accumulation of 7\u2010HOCA observed in the patient, together with a significant reduction in amino acid\u2013conjugated bile acids. Integrated analyses combining bile acid profiling, quantitative PCR, and stable\u2010isotope tracing of cholesterol demonstrated enhanced cholesterol flux toward bile acid biosynthetic pathways and upregulation of bile acid synthetic enzymes in\n                    <jats:italic>Baat<\/jats:italic>\n                    \u2010deficient livers. These findings indicate that\n                    <jats:italic>BAAT<\/jats:italic>\n                    deficiency leads to dysregulated bile acid synthesis in addition to defective conjugation. Together, our results reveal a previously unrecognized metabolic phenotype of\n                    <jats:italic>BAAT<\/jats:italic>\n                    deficiency and provide mechanistic insight into its pathophysiology, establishing a novel in\u00a0vivo model for studying bile acid metabolism beyond simple conjugation defects.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70232","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T11:04:23Z","timestamp":1785927863000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>Baat<\/i>\n                    \u2010Deficient Mice Recapitulate Elevated 7\u03b1\u2010Hydroxy\u20103\u2010Oxo\u20104\u2010Cholestenoic Acid Observed in a Japanese Patient With\n                    <i>BAAT<\/i>\n                    Deficiency"],"prefix":"10.1002","volume":"49","author":[{"given":"Soma","family":"Koga","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Takei","sequence":"additional","affiliation":[{"name":"Junshin Clinic Bile Acid Institute Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryutaro","family":"Tamura","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3191-0192","authenticated-orcid":false,"given":"Yugo","family":"Takaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology, Japanese Red Cross Kumamoto 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