{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T15:12:09Z","timestamp":1789139529848,"version":"build-2803163510"},"reference-count":40,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Transaldolase deficiency (TALDO-D) is an ultra-rare disorder of the non-oxidative pentose phosphate pathway with prominent liver disease and systemic accumulation of polyols and seven-carbon sugars. We systematically reviewed hepatic manifestations, molecular findings, genotype\u2013phenotype relationships, and liver transplantation (LTx) experience. PubMed\/MEDLINE and Europe PMC were searched from inception to 10 August 2026, with citation tracking; supplementary Scopus and Web of Science Core Collection searches were performed on 19 August and 1 September 2026, respectively. Twenty-nine primary clinical reports were included. Individual-patient reconciliation supported 51 genetically\/biochemically confirmed patients as the primary analytic set; inclusion of one diagnostically uncertain patient with a homozygous in-frame TALDO1 variant reported as a variant of uncertain significance produced an upper-bound sensitivity set of 52. Seven patients underwent LTx. TALDO1 variants were heterogeneous, and intrafamilial and intragenotypic variability precluded reliable genotype-based prediction. LTx may provide organ-specific rescue for advanced liver disease, but persistent renal, endocrine, hematologic, and metabolic abnormalities require lifelong multisystem surveillance.<\/jats:p>","DOI":"10.3390\/ijms27188100","type":"journal-article","created":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T14:39:24Z","timestamp":1789137564000},"page":"8100","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype\u2013Phenotype Relationships, and Transplantation Outcomes\u2014A Systematic Review"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1849-8375","authenticated-orcid":false,"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[{"name":"Third Department of Pediatrics, Center of Postgraduate Medical Education, 05-092 Dziekan\u00f3w Le\u015bny, Poland"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"conceptualization","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"project-administration","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"software","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"},{"role":"visualization","vocabulary":"credit"},{"role":"validation","vocabulary":"credit"},{"role":"data-curation","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"}]},{"given":"Piotr","family":"Socha","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"Irena","family":"Jankowska","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/320108","article-title":"Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway","volume":"68","author":"Verhoeven","year":"2001","journal-title":"Am. 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