{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:24:51Z","timestamp":1783009491075,"version":"3.54.5"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0078_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Tyrosinemia type III is an extremely rare autosomal recessive disorder of tyrosine metabolism caused by\u00a0mutations in the\n                      <jats:italic>HPD<\/jats:italic>\n                      gene, which encodes 4-hydroxyphenylpyruvate dioxygenase (HPPD). Wolff\u2013Parkinson\u2013White (WPW) syndrome is a congenital cardiac conduction disorder characterized by the presence of an\u00a0accessory atrioventricular pathway. While each condition is rare in isolation, their coexistence has not been previously reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0078_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We present a unique case of a 6-year-old boy with known WPW syndrome who was admitted with ketotic hypoglycemia after prolonged fasting and omission of propranolol doses. Metabolic work-up revealed persistently elevated plasma tyrosine levels. Genetic testing confirmed tyrosinemia type III due to a novel homozygous\n                      <jats:italic>HPD<\/jats:italic>\n                      variant [c.559A&gt;G (p.Asn187Asp)]. The persistence of the WPW pattern despite decreased plasma tyrosine levels suggests that there is no direct causal relationship. He was also diagnosed with attention-deficit\/hyperactivity disorder, specific learning disorder, and borderline intellectual functioning.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0078_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case highlights the importance of metabolic evaluation in pediatric patients presenting with unexplained hypoglycemia, particularly in the presence of pre-existing cardiac disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0078","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T22:49:43Z","timestamp":1775774983000},"page":"613-616","source":"Crossref","is-referenced-by-count":0,"title":["A rare coexistence: tyrosinemia type III and Wolff\u2013Parkinson\u2013White syndrome"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0220-6566","authenticated-orcid":false,"given":"Emel","family":"Y\u0131lmaz-G\u00fcm\u00fc\u015f","sequence":"first","affiliation":[{"name":"Department of Pediatrics , 64050 Marmara University School of Medicine, Division of Inherited Metabolic Diseases , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Gen\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 64050 Marmara University School of Medicine, Division of Inherited Metabolic Diseases , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damla","family":"Kocaman","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietitian , 64050 Marmara University School of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berna","family":"\u015eaylan-\u00c7evik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Health Sciences, Division of Pediatric Cardiology, Pediatric Arrhythmia Unit , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Polat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , 64050 Marmara University School of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Arslan-Ate\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , 64050 Marmara University School of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6zde","family":"Yazkan-Akg\u00fcl","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry , 64050 Marmara University School of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00fcmeyye","family":"Sar\u0131ba\u015f-Akmehmet","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry , 64050 Marmara University School of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7527-2620","authenticated-orcid":false,"given":"Sebile","family":"K\u0131lavuz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 64050 Marmara University School of Medicine, Division of Inherited Metabolic Diseases , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7146-0248","authenticated-orcid":false,"given":"Burcu","family":"\u00d6zt\u00fcrk-Hi\u015fmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 64050 Marmara University School of Medicine, Division of Inherited Metabolic Diseases , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,4,7]]},"reference":[{"key":"2026070215583362770_j_jpem-2026-0078_ref_001","doi-asserted-by":"crossref","unstructured":"Ruetschi, U, Cerone, R, Perez-Cerda, C, Schiaffino, MC, Standing, S, Ugarte, M, et al.. 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