{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:04:30Z","timestamp":1784714670798,"version":"3.55.0"},"reference-count":29,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,12,11]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency is a rare lethal inherited disorder of fatty acid oxidation. Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes for \u03b2-oxidation, where CPT II plays a key role. CPT II deficiency phenotypical forms include lethal neonatal, severe infantile and myopathic forms. We present a term small-for-gestational-age neonate with hypoglycaemia, seizures, refractory cardiac arrhythmias and intracranial haemorrhage. Plasma acylcarnitine profile and the genetic study confirmed CPT II deficiency. Additionally, likely pathogenic variants in the <jats:italic>SLC22A5<\/jats:italic> gene point to primary carnitine deficiency. Antenatal findings of polycystic kidney disease and cardiomegaly were confirmed postnatally. All supportive measures, including extracorporeal life support, failed to improve the clinical course, and the baby succumbed. Major renal, cerebral and cardiac anomalies were reported with CPT II deficiency. In our case, fetal polycystic nephromegaly and cardiomegaly with parental consanguinity should have signalled the possibility of this disorder.<\/jats:p>","DOI":"10.1136\/bcr-2022-251321","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T11:18:24Z","timestamp":1671448704000},"page":"e251321","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect"],"prefix":"10.1136","volume":"15","author":[{"given":"Yee Yin","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Neonatology, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen Yan Nikki","family":"Fong","sequence":"additional","affiliation":[{"name":"Genetic Services, Department of Paediatrics, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charmaine Jiahui","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Subspecialities, KK Women's and Children's Hospital, Singapore"},{"name":"Paediatric Academic Clinical Programme, Lee Kong Chian School of Medicine, Singapore"},{"name":"Paediatric Academic Clinical Programme, Duke NUS Medical School, Singapore"},{"name":"Paediatric Academic Clinical Programme, Yong Loo Lin School of Medicine, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5961-7441","authenticated-orcid":false,"given":"Suresh","family":"Chandran","sequence":"additional","affiliation":[{"name":"Department of Neonatology, KK Women's and Children's Hospital, Singapore"},{"name":"Paediatric Academic Clinical Programme, Lee Kong Chian School of Medicine, Singapore"},{"name":"Paediatric Academic Clinical Programme, Duke NUS Medical School, Singapore"},{"name":"Paediatric Academic Clinical Programme, Yong Loo Lin School of Medicine, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,12,19]]},"reference":[{"key":"2025082723192435000_15.12.e251321.1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1743-7075-7-30","article-title":"Role of carnitine in disease","volume":"7","author":"Flanagan","year":"2010","journal-title":"Nutr Metab"},{"key":"2025082723192435000_15.12.e251321.2","doi-asserted-by":"crossref","DOI":"10.3390\/molecules25081784","article-title":"Muscle carnitine palmitoyltransferase II (CPT II) deficiency: a conceptual approach","volume":"25","author":"Joshi","year":"2020","journal-title":"Molecules"},{"key":"2025082723192435000_15.12.e251321.3","first-page":"SD01","article-title":"Neonatal carnitine palmitoyltransferase II deficiency: a lethal entity","volume":"9","author":"Malik","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"2025082723192435000_15.12.e251321.4","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/cge.12593","article-title":"Diagnostic pitfall in antenatal manifestations of CPT II deficiency","volume":"89","author":"Boemer","year":"2016","journal-title":"Clin Genet"},{"key":"2025082723192435000_15.12.e251321.5","unstructured":"Wieser T . Carnitine Palmitoyltransferase II Deficiency. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2004."},{"key":"2025082723192435000_15.12.e251321.6","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.braindev.2015.08.011","article-title":"Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: characteristics in comparison with pediatric cases","volume":"38","author":"Yamada","year":"2016","journal-title":"Brain Dev"},{"key":"2025082723192435000_15.12.e251321.7","unstructured":"MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated Jun 24; cited 2020 Jul 1]. Carnitine Palmitoyltransferase II Deficiency. 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