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Liver transplantation (LT) may restore urea cycle function and prevent disease progression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This retrospective study analyzed six patients with HHH syndrome who underwent LT between 2016 and 2022. Pre- and post-transplant evaluations included biochemical tests, genetic analysis, neurological assessments, and quality-of-life measures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>LT successfully normalized metabolic parameters (ammonia and amino acid levels) and allowed patients to resume normal diets. Early transplantation resulted in neurological improvement in 5 of 6 patients (83.3%), including reduced lower limb spasticity and improved walking ability. Two patients (33.3%) achieved nearly normal gait, and one patient (16.7%) recovered to normal motor function within three months after LT. Quality-of-life scores improved in 2 patients (33.3%). The overall survival rate was 83.3%, with one patient dying from unrelated causes 5 years post-transplant. No significant long-term complications were observed in the surviving patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Liver transplantation is an effective treatment for HHH syndrome, halting neurological decline and improving quality of life. Early LT before irreversible damage provides the best outcomes, making it a viable option for patients with progressive symptoms unresponsive to conventional therapies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Clinical trial number<\/jats:title>\n                    <jats:p>Not applicable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04077-5","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T08:33:49Z","timestamp":1761122029000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability \u2014 The largest single-center experience"],"prefix":"10.1186","volume":"20","author":[{"given":"Hongfei","family":"Ju","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhigui","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiming","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Ying","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7031-2083","authenticated-orcid":false,"given":"Zhi-Jun","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"key":"4077_CR1","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/1750-1172-7-32","volume":"7","author":"J H\u00e4berle","year":"2012","unstructured":"H\u00e4berle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. 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The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013). This study was approved by the Ethics Committee of Beijing Friendship Hospital, Capital Medical University (No. 2020-P2-094-01). We declare that no organs from executed prisoners were used at Beijing Friendship Hospital, Capital Medical University. All the operations were approved by the Ethical Committee of Beijing Friendship Hospital, Capital Medical University, and all living donors were voluntary and altruistic. Informed consents were obtained from all individual legal guardians of participants included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statement and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"532"}}