{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:56:06Z","timestamp":1791820566832,"version":"4.3.4"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T00:00:00Z","timestamp":1667952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta\u2010oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18\u2010week\u2010old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4\u2009days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of <jats:italic>SLC22A5<\/jats:italic> gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late.<\/jats:p>","DOI":"10.1002\/jmd2.12346","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T01:54:36Z","timestamp":1668045276000},"page":"35-41","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8583-1326","authenticated-orcid":false,"given":"Lebreton","family":"Louis","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6174-6522","authenticated-orcid":false,"given":"Gaschignard","family":"Margaux","sequence":"additional","affiliation":[{"name":"H\u00f4pital P\u00e9diatrique, P\u00f4le P\u00e9diatrique, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9525-6839","authenticated-orcid":false,"given":"Guibet","family":"Claire","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamireau","family":"Delphine","sequence":"additional","affiliation":[{"name":"H\u00f4pital P\u00e9diatrique, P\u00f4le P\u00e9diatrique, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9315-0627","authenticated-orcid":false,"given":"Roche","family":"Sandrine","sequence":"additional","affiliation":[{"name":"H\u00f4pital P\u00e9diatrique, P\u00f4le P\u00e9diatrique, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3495-7156","authenticated-orcid":false,"given":"Richard","family":"Emmanuel","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"},{"name":"INSERM BRIC U1312 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7257-8264","authenticated-orcid":false,"given":"Ged","family":"C\u00e9cile","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"},{"name":"INSERM BRIC U1312 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mesli","family":"Samir","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5102-3814","authenticated-orcid":false,"given":"Redonnet\u2010Vernhet","family":"Isabelle","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie P\u00f4le de Biologie et Pathologie, CHU de Bordeaux  Bordeaux France"},{"name":"lNSERM MRGM U1211 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2016.01.023"},{"key":"e_1_2_10_3_1","unstructured":"Olpin S.Systemic primary carnitine deficiency; Orphanet encyclopedia. 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