{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:00:45Z","timestamp":1790748045649,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"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":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary carnitine deficiency is a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy and sudden cardiac death. Effective treatment with carnitine supplementation is available. An 18\u2009months old boy, who presented with cardiomyopathy was diagnosed with primary carnitine deficiency, and carnitine supplementation resulted in a full recovery. At age 13\u2009years, he discontinued his medication and at 20\u2009years, he discontinued clinical monitoring. Nine years later, age 29, he presented with heart failure and atrial fibrillation and was admitted to an intensive care unit, where he was treated with furosemide, enoximone and intravenous carnitine supplementation, this lead to improved cardiac function within 2\u2009weeks, and with continued oral carnitine supplements, his left ventricular ejection fraction normalised. The last 8\u2009years were uneventful and he continued to attend his regular follow\u2010up visits at a specialised metabolic outpatient clinic. We report recurrent reversible severe heart failure in a patient with primary carnitine deficiency; it was directly related to non\u2010compliance to carnitine supplementation (and monitoring). This case report emphasises first, the importance of continued monitoring of metabolic disease patients, second, the potential reversibility of cardiomyopathy in an adult patient, and third, the potential risks in the period of transition from the paediatric to adult care. This is an age where young adults desire to be healthy and ignore the need for ongoing medical treatment, even as simple as oral suppletion. Before they reach this age, adequate disease insight and self\u2010management of the disease should be promoted.<\/jats:p>","DOI":"10.1002\/jmd2.12319","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T04:13:48Z","timestamp":1658981628000},"page":"524-528","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Primary carnitine deficiency is a life\u2010long disease"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2057-5525","authenticated-orcid":false,"given":"Loek L.","family":"Crefcoeur","sequence":"first","affiliation":[{"name":"Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht  Utrecht Netherlands"},{"name":"Laboratory Genetic Metabolic Diseases Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam Gastroenterology and Metabolism  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille C.","family":"Melles","sequence":"additional","affiliation":[{"name":"Department of Cardiology Maasstad Hospital  Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias A.","family":"Bruning","sequence":"additional","affiliation":[{"name":"Department of Cardiology Maasstad Hospital  Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob Rodrigues","family":"Pereira","sequence":"additional","affiliation":[{"name":"Division of pediatrics Medical Center Kinderplein  Rotterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4899-7239","authenticated-orcid":false,"given":"Janneke G.","family":"Langendonk","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases Erasmus MC, University Medical Centre Rotterdam  Rotterdam 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