{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T11:40:06Z","timestamp":1739619606453,"version":"3.37.1"},"reference-count":46,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0302_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by <jats:italic>PCCA<\/jats:italic> and <jats:italic>PCCB<\/jats:italic> genes. This retrospective study presents the clinical and laboratory characteristics of PA patients followed up in our center.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0302_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Included in the study were 50 patients diagnosed in a single center with propionic acidemia between 1984 and 2020, whose electronic and written hospital records regarding demographic, clinical, and laboratory features, along with diagnostic and therapeutic approaches, were reviewed retrospectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0302_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>This cohort had a median age at diagnosis of 18\u00a0days and 91.1\u202f% (n=41) were born at term. Consanguinity was notably prevalent (91.1\u202f%), and a family history of PA was reported in 14\u202f% of cases. No significant relationships were observed between clinical and laboratory parameters and mortality. Laboratory findings at the time of diagnosis revealed significant metabolic abnormalities, including low levels of free carnitine, elevated C3 propionyl carnitine, and varied amino acid imbalances. Twenty-three patients exhibited developmental delay and\/or intellectual disability. Brain magnetic resonance imaging unveiled white matter involvement and ventricular dilatation in 9\/25 patients. Furthermore, dilated cardiomyopathy (26\u202f%) was noted in patients who had cardiac assessments. Among the study cohort, 27 patients survived, 23 patients died during follow-up. No significant relationships were observed between clinical and laboratory parameters and mortality.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0302_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0366","type":"journal-article","created":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T10:57:54Z","timestamp":1739617074000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1982-8046","authenticated-orcid":false,"given":"Halil Tuna","family":"Akar","sequence":"first","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9563-0296","authenticated-orcid":false,"given":"Ay\u00e7a Burcu","family":"Kahraman","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-1388","authenticated-orcid":false,"given":"Y\u0131lmaz","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7253-1129","authenticated-orcid":false,"given":"Berat","family":"Baran","sequence":"additional","affiliation":[{"name":"Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6800-8848","authenticated-orcid":false,"given":"K\u0131smet","family":"\u00c7\u0131k\u0131","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9589-0445","authenticated-orcid":false,"given":"Turgay","family":"Co\u015fkun","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8418-9204","authenticated-orcid":false,"given":"Didem","family":"Y\u00fccel Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Institute of Child Health, Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0283-635X","authenticated-orcid":false,"given":"R\u0131za","family":"K\u00f6ksal \u00d6zg\u00fcl","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Institute of Child Health, Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5136-3977","authenticated-orcid":false,"given":"Hayrettin","family":"Hakan Aykan","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1104-9902","authenticated-orcid":false,"given":"Ali","family":"Dursun","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8260-9984","authenticated-orcid":false,"given":"Serap","family":"Sivri","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2812-9319","authenticated-orcid":false,"given":"Ay\u015feg\u00fcl","family":"Tokatl\u0131","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"2025021510582836133_j_jpem-2024-0366_ref_001","doi-asserted-by":"crossref","unstructured":"Pena, L, Franks, J, Chapman, KA, Gropman, A, Ah Mew, N, Chakrapani, A, et al.. 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