{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:20:36Z","timestamp":1789179636643,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Transaldolase (TALDO) deficiency has a well\u2010characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients. We retrospectively collected data on 16 patients followed for up to 20\u2009years. Liver involvement was present in all patients, with six presenting liver failure at birth. During long\u2010term follow\u2010up, 10 patients developed cirrhosis and four underwent liver transplantation (LTx). Two patients died from severe liver failure in the first months of life; persistent weight below 4\u2009kg precluded LTx. A third patient died from posttransplant complications at 6\u2009months of life. Five patients developed chronic kidney failure, and in two of them kidney transplantation was considered after the age of 20\u2009years. Patent foramen ovale (PFO) was the most frequent cardiac finding; cardiomyopathy or ventricular dysfunction was diagnosed in five patients. Twelve patients developed chronic cytopenia, all presenting with thrombocytopenia. Hypergonadotropic hypogonadism was found in seven patients; two others developed secondary adrenal cortisol insufficiency and primary hypothyroidism requiring replacement therapy. Mild neurocognitive delay was observed only in a few cases. We described different patterns of liver disease progression. Transplantation should be early considered if indicated for liver insufficiency; in the most severe patients with neonatal onset, achieving sufficient weight for transplantation may be challenging. Our preliminary data suggest that, in older patients, kidney involvement may also warrant consideration of kidney transplantation, which was not previously described for this disease.<\/jats:p>","DOI":"10.1002\/jimd.70173","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T10:08:41Z","timestamp":1773396521000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Long\u2010Term Follow\u2010Up of Patients With Transaldolase Deficiency"],"prefix":"10.1002","volume":"49","author":[{"given":"Marco","family":"Scaglione","sequence":"first","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism, Department of Pediatrics Necker\u2010Enfants\u2010Malades Hospital, APHP, University of Paris Cit\u00e9, French G2m Network for Metabolic Diseases, MetabERN, INSERM\u20101151, INEM, INSERM UMR _S1163, Institut Imagine  Paris France"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism, Department of Pediatrics Necker\u2010Enfants\u2010Malades Hospital, APHP, University of Paris Cit\u00e9, French G2m Network for Metabolic Diseases, MetabERN, INSERM\u20101151, INEM, INSERM UMR _S1163, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Wiedemann","sequence":"additional","affiliation":[{"name":"Department of Paediatrics H\u00f4pital d'Enfants Brabois, CHU Nancy  Vandoeuvre les Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Jankowska","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Paw\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Lamireau","sequence":"additional","affiliation":[{"name":"University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Bridoux\u2010Henno","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescence Medicine Sud Hospital  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Douillard","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetology and Metabolism Reference Center for Inherited Metabolic Disease, Metab ERN, CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Casswall","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Astrid Lindgren Children's Hospital Karolinska University Hospital, CLINTEC, Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Cucinotta","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Gastroenterology\u2010Nutrition Necker\u2010Enfants Malades University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Gaschignard","sequence":"additional","affiliation":[{"name":"Reference Center for Inborn Errors of Metabolism, Department of Pediatrics Necker\u2010Enfants\u2010Malades Hospital, APHP, University of Paris Cit\u00e9, French G2m Network for Metabolic Diseases, MetabERN, INSERM\u20101151, INEM, INSERM UMR _S1163, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Socha","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8717-469X","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[{"name":"Department of Paediatrics H\u00f4pital d'Enfants Brabois, CHU Nancy  Vandoeuvre les Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjorn","family":"Fischler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Astrid Lindgren Children's Hospital Karolinska University Hospital, CLINTEC, Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinane","family":"Samara\u2010Boustani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Schiaffino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics IRCCS G. 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