{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T15:36:06Z","timestamp":1771515366192,"version":"3.50.1"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,24]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disorder that may present with severe hepatic and neurological complications. Acute porphyria-like crises in HT1 are extremely uncommon and may be associated with severe electrolyte disturbances such as hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH).<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We describe a 9-year-old girl with genetically confirmed HT1 who developed an acute porphyria-like crisis accompanied by severe symptomatic hyponatremia secondary to SIADH. The patient presented with abdominal pain, vomiting, and progressive neurological deterioration culminating in generalized tonic\u2013clonic seizures. Laboratory evaluation revealed profound hyponatremia, elevated urinary succinylacetone, and increased porphyrin precursors. Management included intravenous hemin therapy, fluid restriction, and intensive care support, leading to full neurological recovery without sequelae.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n To our knowledge, this is the first reported case in T\u00fcrkiye successfully managed with hemin during an acute porphyria-like episode in HT1 and only the second documented case of SIADH in this context. This case underscores the importance of recognizing SIADH and optimizing fluid management in patients with HT1 presenting with acute neurological crises.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2025-0311","type":"journal-article","created":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T08:56:53Z","timestamp":1760259413000},"page":"204-207","source":"Crossref","is-referenced-by-count":0,"title":["Management of porphyria-like syndrome in tyrosinemia type 1"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1224-5756","authenticated-orcid":false,"given":"Hacer","family":"Basan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Department of Pediatric Metabolic Diseases , Ankara City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-0647","authenticated-orcid":false,"given":"Berrak","family":"Bilginer G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Department of Pediatric Metabolic Diseases , Ankara City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Ankara Yildirim Beyazit University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serhan","family":"\u00d6zcan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care , Ankara City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aynur","family":"K\u00fc\u00e7\u00fck\u00e7ongar Yava\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Department of Pediatric Metabolic Diseases , Ankara City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Department of Pediatric Metabolic Diseases , Ankara City Hospital , Ankara , T\u00fcrkiye"},{"name":"Department of Pediatric Metabolism , Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,10,13]]},"reference":[{"key":"2026021914572465895_j_jpem-2025-0311_ref_001","doi-asserted-by":"crossref","unstructured":"Morrow, G, Tanguay, RM. Biochemical and clinical aspects of hereditary tyrosinemia type 1. Adv Exp Med Biol 2017;959:9\u201321. https:\/\/doi.org\/10.1007\/978-3-319-55780-9_2.","DOI":"10.1007\/978-3-319-55780-9_2"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_002","doi-asserted-by":"crossref","unstructured":"Sassa, S, Kappas, A. Hereditary tyrosinemia and the heme biosynthetic pathway: profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J\u00a0Clin Invest 1983;71:625\u201334. https:\/\/doi.org\/10.1172\/jci110809.","DOI":"10.1172\/JCI110809"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_003","doi-asserted-by":"crossref","unstructured":"van Spronsen, FJ, Thomasse, Y, Smit, GP, Leonard, JV, Clayton, PT, Heymans, HS, et al.. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. 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The syndrome of inappropriate secretion of antidiuretic hormone. Am J Med 1967;42:790\u2013806. https:\/\/doi.org\/10.1016\/0002-9343(67)90096-4.","DOI":"10.1016\/0002-9343(67)90096-4"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_007","unstructured":"Muraoka, A, Kurata, K, Matsunaga, A, Maruyama, M, Yamamoto, H, Miyamoto, M, et al.. Delta-aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. Kobe J Med Sci 1995;41:23\u201331."},{"key":"2026021914572465895_j_jpem-2025-0311_ref_008","doi-asserted-by":"crossref","unstructured":"Yaz\u0131c\u0131, H, \u00c7elik, S, \u00d6zbek, MN, G\u00f6k\u00e7e, S, Gen\u00e7p\u0131nar, P, Ceylaner, S, et al.. Tyrosinemia type I and reversible neurogenic crisis after a one-month interruption of nitisinone. J\u00a0Pediatr Res 2018;5:57.","DOI":"10.4274\/jpr42275"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_009","doi-asserted-by":"crossref","unstructured":"Bloomer, JR, Watson, CJ, Allen, FHJr, Stein, JA, Berlin, NI, Tschudy, DP. Blood volume and bilirubin production in acute intermittent porphyria. N\u00a0Engl J Med 1971;284:17\u201320. https:\/\/doi.org\/10.1056\/nejm197101072840104.","DOI":"10.1056\/NEJM197101072840104"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_010","doi-asserted-by":"crossref","unstructured":"Edel, Y, Mamet, R. Porphyria: what is it and who should be evaluated? Rambam Maimonides Med J 2018;9:e0013. https:\/\/doi.org\/10.5041\/rmmj.10333.","DOI":"10.5041\/RMMJ.10333"},{"key":"2026021914572465895_j_jpem-2025-0311_ref_011","doi-asserted-by":"crossref","unstructured":"Anderson, KE, Bloomer, JR, Bonkovsky, HL, Kushner, JP, Pierach, CA, Pimstone, NR, et al.. Recommendations for the diagnosis and treatment of the acute porphyrias. 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