{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:32:21Z","timestamp":1790299941516,"version":"4.1.0"},"reference-count":10,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T00:00:00Z","timestamp":1538006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three clinical phenotypes of CPT II deficiency have been described: Lethal neonatal onset, infantile severe form, and the late onset more common muscular form. The muscular form of CPT II deficiency is characterized by pain crises and rhabdomyolysis triggered by energy-dependent factors. This form has been described as a benign condition; however, the acute crises are insidious and thus, pose a risk of death. We report a 3-year-old female child with an acute pulmonary infection and a concomitant rhabdomyolysis. The acylcarnitine profile was consistent with CPT II deficiency and a molecular study allowed the identification of the common missense variant (NM_000098.2: c.338C&gt;T \u2013 p. Ser113Leu) at the homozygous state. The striking difference between the initial cause and the decompensation severity prompted us to consider other diagnoses. Deciphering the symptoms linked to CPT II deficiency among those of the initial decompensation results in initiating a timely a targeted therapy.<\/jats:p>","DOI":"10.3390\/ijms19102950","type":"journal-article","created":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T02:54:54Z","timestamp":1538103294000},"page":"2950","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Acute Respiratory Infection Unveiling CPT II Deficiency"],"prefix":"10.3390","volume":"19","author":[{"given":"Nicolas","family":"Blah","sequence":"first","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"},{"name":"Department of Internal Medicine, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Sudri\u00e9-Arnaud","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Torre","sequence":"additional","affiliation":[{"name":"Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[{"name":"Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France"},{"name":"Normandie Universit\u00e9, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"},{"name":"Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,9,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase ii (cpt ii) deficiency: Genotype-phenotype analysis of 50 patients","volume":"338","author":"Joshi","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1016\/j.forsciint.2017.06.020","article-title":"Sudden infant death from neonate carnitine palmitoyl transferase ii deficiency","volume":"278","author":"Du","year":"2017","journal-title":"Forensic Sci. Int."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"481","DOI":"10.2350\/08-10-0548.1","article-title":"Severe infantile carnitine palmitoyltransferase ii deficiency in 19-week fetal sibs","volume":"12","author":"Meir","year":"2009","journal-title":"Pediatr. Dev. Pathol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Lehmann, D., Motlagh, L., Robaa, D., and Zierz, S. (2017). Muscle carnitine palmitoyltransferase ii deficiency: A review of enzymatic controversy and clinical features. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18010082"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ejim.2006.09.020","article-title":"The syndrome of rhabdomyolysis: Pathophysiology and diagnosis","volume":"18","author":"Giannoglou","year":"2007","journal-title":"Eur. J. Intern. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.nmd.2014.05.005","article-title":"Rhabdomyolysis: Review of the literature","volume":"24","author":"Zutt","year":"2014","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1001\/archneur.62.1.37","article-title":"Muscle carnitine palmitoyltransferase ii deficiency: Clinical and molecular genetic features and diagnostic aspects","volume":"62","author":"Deschauer","year":"2005","journal-title":"Arch. 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