{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T17:13:53Z","timestamp":1756574033664},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2019-0038_s_999\">\n<jats:title id=\"d3356547e55220\">Background<\/jats:title>\n<jats:p>The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2019-0038_s_998\">\n<jats:title id=\"d3356547e55228\">Case presentation<\/jats:title>\n<jats:p>The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the <jats:italic>CPT2<\/jats:italic> gene using next-generation sequencing.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2019-0038_s_997\">\n<jats:title id=\"d3356547e55239\">Conclusions<\/jats:title>\n<jats:p>We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2019-0038","type":"journal-article","created":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T09:15:23Z","timestamp":1560503723000},"page":"781-783","source":"Crossref","is-referenced-by-count":5,"title":["A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency"],"prefix":"10.1515","volume":"32","author":[{"given":"Sevil","family":"Dorum","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ipek","family":"G\u00fcney 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