{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:04:31Z","timestamp":1784714671758,"version":"3.55.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary carnitine deficiency due to mutations in the\n                      <jats:italic>SLC22A5<\/jats:italic>\n                      gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2\u2009years after successful heart transplantation thanks his younger sister\u2019s having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-020-01371-2","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T06:03:03Z","timestamp":1586498583000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Primary carnitine deficiency \u2013 diagnosis after heart transplantation: better late than never!"],"prefix":"10.1186","volume":"15","author":[{"given":"Sarah C.","family":"Gr\u00fcnert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Schumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meike","family":"Schwendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwendolyn","family":"Gramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Erbel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Stiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Spiekerkoetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"1371_CR1","first-page":"2422","volume":"2016","author":"N Longo","year":"1863","unstructured":"Longo N, Frigeni M, Pasquali M. Carnitine transport and fatty acid oxidation. Biochim Biophys Acta. 1863;2016:2422\u201335.","journal-title":"Biochim Biophys Acta"},{"key":"1371_CR2","first-page":"1482","volume":"290","author":"X Wu","year":"1999","unstructured":"Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, et al. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation\/carnitine transporter. J Pharmacol Exp Ther. 1999;290:1482\u201392.","journal-title":"J Pharmacol Exp Ther"},{"key":"1371_CR3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/ajmg.c.30087","volume":"142C","author":"N Longo","year":"2006","unstructured":"Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142C:77\u201385.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1371_CR4","volume-title":"GeneReviews\u00ae","author":"AW El-Hattab","year":"1993","unstructured":"El-Hattab AW. Systemic Primary Carnitine Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews\u00ae. Seattle: University of Washington, Seattle; 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK84551\/. Accessed 4 Oct 2019."},{"key":"1371_CR5","unstructured":"Gemeinsamer Bundesausschuss der \u00c4rzte und Krankenkassen. Richtlinie des Gemeinsamen Bundesausschusses \u00fcber die Fr\u00fcherkennung von Krankheiten bei Kindern (Kinder-Richtlinie) in der Fassung vom 18. Juni 2015. Zuletzt ge\u00e4ndert am 22. November 2018, in Kraft getreten am 9. August 2019.\" https:\/\/www.g-ba.de\/downloads\/62-492-1905\/Kinder-RL_2018-11-22_iK_2019-08-09.pdf. 2019."},{"key":"1371_CR6","doi-asserted-by":"crossref","unstructured":"R\u00f6schinger W, Sonnenschein S, Schuhmann E, Nennstiel-Ratzel A, Roscher A, Olgem\u00f6ller B. Neue Zielerkrankungen im Neugeborenenscreening - Empfehlungen aus einem Pilotprojekt. Monatsschr Kinderheilkd. 2015;2:142\u20139.","DOI":"10.1007\/s00112-014-3297-0"},{"key":"1371_CR7","doi-asserted-by":"crossref","unstructured":"Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, M\u00fctze U, et al. Newborn screening for vitamin B12 deficiency in Germany-strategies, results, and public health implications. J Pediatr. 2019.","DOI":"10.1016\/j.jpeds.2019.07.052"},{"key":"1371_CR8","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1002\/jimd.12030","volume":"42","author":"C Wilson","year":"2019","unstructured":"Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. The decision to discontinue screening for carnitine uptake disorder in New Zealand. J Inherit Metab Dis. 2019;42:86\u201392.","journal-title":"J Inherit Metab Dis"},{"key":"1371_CR9","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/ajmg.10585","volume":"111","author":"A-M Lamhonwah","year":"2002","unstructured":"Lamhonwah A-M, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002;111:271\u201384.","journal-title":"Am J Med Genet"},{"key":"1371_CR10","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1055\/s-2008-1052536","volume":"16","author":"T Matsuishi","year":"1985","unstructured":"Matsuishi T, Hirata K, Terasawa K, Kato H, Yoshino M, Ohtaki E, et al. Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. 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