{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:21:17Z","timestamp":1790619677186,"version":"4.1.0"},"reference-count":11,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Background and Clinical Significance: Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive metabolic disorder caused by a pathogenic variant in the TPI1 gene. It is characterised by chronic haemolytic anaemia, progressive neuromuscular dysfunction, and reduced life expectancy. Patients typically present with symptoms in the first few months of life, including muscle weakness, ataxia, and recurrent respiratory infections. Diagnosis is confirmed by genetic testing, and management is generally symptomatic as no treatment is available. Case Presentation: We describe the case of an infant diagnosed with TPI deficiency in the context of haemolytic anaemia with progressive neurological deterioration and respiratory failure. Conclusions: This case illustrates the complexity of the disease and highlights the importance of early diagnosis and contributes to the limited literature by providing a detailed clinical description and highlighting the diagnostic challenges associated with this condition. Beyond its clinical relevance, this report emphasises the potential role of personalised medicine in the management of TPI deficiency. Early identification of specific genotypes may inform prognosis and guide individualised supportive strategies. As knowledge of the molecular underpinnings of TPI deficiency expands, opportunities may emerge for targeted therapeutic approaches tailored to patient-specific characteristics.<\/jats:p>","DOI":"10.3390\/reports8030162","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T08:28:15Z","timestamp":1756715295000},"page":"162","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report"],"prefix":"10.3390","volume":"8","author":[{"given":"Carolina","family":"Ramos","sequence":"first","affiliation":[{"name":"Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-8096","authenticated-orcid":false,"given":"In\u00eas","family":"Pereira","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Coelho","sequence":"additional","affiliation":[{"name":"Neuropediatric Unit, Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Dias","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9197-7586","authenticated-orcid":false,"given":"Patr\u00edcia Lipari","family":"Pinto","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Hereditary Metabolic Disease Reference Center, Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-038 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0224-1679","authenticated-orcid":false,"given":"Anabela","family":"Ferr\u00e3o","sequence":"additional","affiliation":[{"name":"Haematology Unit, Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros\u00e1rio","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Pediatric Respiratory Unit, Pediatric Department, Hospital de Santa Maria, Unidade Local de Sa\u00fade de Santa Maria, 1600-028 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/ana.410170504","article-title":"Neurological findings in triosephosphate isomerase deficiency","volume":"17","author":"Aicardi","year":"1985","journal-title":"Ann. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1056\/NEJM196502042720503","article-title":"Hereditary hemolytic anemia with triosephosphate isomerase deficiency","volume":"272","author":"Schneider","year":"1965","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1080\/15216540601115960","article-title":"Triosephosphate isomerase deficiency: Facts and doubts","volume":"58","author":"Orosz","year":"2006","journal-title":"IUBMB Life"},{"key":"ref_4","first-page":"198","article-title":"Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: A disorder of glycolysis, triosephosphate isomerase deficiency","volume":"55","author":"Sarper","year":"2013","journal-title":"Turk. J. Pediatr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1159\/000528192","article-title":"Triosephosphate isomerase deficiency: E105 D mutation in unrelated patients and review of the literature","volume":"14","author":"Karaca","year":"2023","journal-title":"Mol. Syndromol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"234","DOI":"10.3109\/15513815.2014.915365","article-title":"Hemolytic anemia and progressive neurologic impairment: Think about triosephosphate isomerase deficiency","volume":"33","author":"Aissa","year":"2014","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S0887-8994(03)00423-5","article-title":"Chronic axonal neuropathy with triosephosphate isomerase deficiency","volume":"30","author":"Wilmshurst","year":"2004","journal-title":"Pediatr. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e3448","DOI":"10.1212\/WNL.0000000000010745","article-title":"Child neurology: Triosephosphate isomerase deficiency","volume":"95","author":"Harris","year":"2020","journal-title":"Neurology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/(SICI)1098-1004(1997)10:4<290::AID-HUMU4>3.0.CO;2-L","article-title":"Evidence for founder effect of the Glu104 Asp substitution and identification of new mutations in triosephosphate isomerase deficiency","volume":"10","author":"Arya","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"18575","DOI":"10.1038\/s41598-024-69618-7","article-title":"Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency","volume":"14","author":"Myers","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1016\/S0140-6736(99)00474-2","article-title":"Towards enzyme-replacement treatment in triosephosphate isomerase deficiency","volume":"353","author":"Ationu","year":"1999","journal-title":"Lancet (Lond. Engl.)"}],"container-title":["Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/3\/162\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:36:53Z","timestamp":1760035013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/3\/162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,1]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["reports8030162"],"URL":"https:\/\/doi.org\/10.3390\/reports8030162","relation":{},"ISSN":["2571-841X"],"issn-type":[{"value":"2571-841X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,1]]}}}