{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:35:47Z","timestamp":1762004147327},"reference-count":21,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,2,24]],"date-time":"2009-02-24T00:00:00Z","timestamp":1235433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5\u2010year\u2010old male Roma child with homozygous deletion of 844C of the <jats:italic>SLC22A5<\/jats:italic> gene, presenting with hepatopathy and cardiomyopathy. Besides the dramatic decrease of plasma free carnitine (1.38 vs 32.7 \u03bcmol\/L in controls) all plasma carnitine esters were severely decreased in the proband: the total esters were 31.4% of the controls. In three heterozygous siblings the free carnitine level was 62.3% of the normal controls, while the levels of the individual carnitine esters ranged between 15.5% and 163% (average 70.9%). The heterozygous parents exhibited the same pattern. The proband was supplemented with 50 mg\/kg per day of <jats:sc>l<\/jats:sc>\u2010carnitine oral solution. After 2 months of treatment, his hepatomegaly, elevated transaminases and the pathological cardiac ultrasound parameters normalized. The plasma free carnitine rose to 12.8 \u03bcmol\/L (39% of the controls). All of the carnitine esters also increased; however, the individual esters were still 8.5\u2013169.7% of the controls (average 55.5%). After 13 months of treatment there was a further increase in free carnitine (15.9 \u03bcmol\/L) as well as in the level of the individual esters, ranging between 16.1% and 140.3% of the controls (average 66.9%). The data presented here show that, besides the dramatic decrease of free carnitine, the carnitine ester metabolism is also affected in OCTN2 deficiency; the replenishment of the pools under treatment is slow. Despite an impressive clinical improvement, the carnitine metabolism can be still seriously affected.<\/jats:p>","DOI":"10.1007\/s10545-009-0926-1","type":"journal-article","created":{"date-parts":[[2009,2,23]],"date-time":"2009-02-23T05:12:55Z","timestamp":1235365975000},"page":"15-19","source":"Crossref","is-referenced-by-count":6,"title":["Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency"],"prefix":"10.1002","volume":"32","author":[{"given":"K.","family":"Koml\u00f3si","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs Szigeti \u00fat 12. P\u00e9cs H\u20107624 Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Magyari","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs Szigeti \u00fat 12. P\u00e9cs H\u20107624 Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. C.","family":"Tali\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs Szigeti \u00fat 12. P\u00e9cs H\u20107624 Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9.","family":"Nemes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"K\u00e1poszta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mogyor\u00f3sy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"M\u00e9hes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs Szigeti \u00fat 12. 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