{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T15:06:02Z","timestamp":1790003162361,"version":"4.0.1"},"reference-count":60,"publisher":"Walter de Gruyter GmbH","issue":"11-12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent \u03b2-oxidation. A carnitine deficiency results in impaired energy production from fatty acids.<\/jats:p><jats:p>We reviewed the plasma level of total carnitine, free carnitine, and acylcarnitines in 1270 children with psychomotor retardation, low growth, and weight parameters. Tandem mass spectrometry (MS\/MS) was applied. Low free carnitine level in plasma was used as a marker of carnitine deficiency.<\/jats:p><jats:p>A total of 102 (8%) children had free carnitine level &lt;19 \u03bcmol\/L (norm 19\u201360 \u03bcmol\/L). As a result of the subsequent investigation, hereditary diseases were diagnosed in 76 (\u00be) children and out of that 19 had very low free carnitine plasma level (&lt;10 \u03bcmol\/L). Fanconi syndrome, fat oxidation defects, primary systemic carnitine deficiency, mitochondrial encephalomyopathy, and Noonan syndrome were revealed in these 19 children.<\/jats:p><jats:p>Efficacy of levocarnitine treatment in children with very low free carnitine level differs according to pathogenesis of diseases. The highest efficacy was observed in primary systemic carnitine deficiency.<\/jats:p>","DOI":"10.1515\/jpem-2015-0193","type":"journal-article","created":{"date-parts":[[2015,7,21]],"date-time":"2015-07-21T17:02:10Z","timestamp":1437498130000},"source":"Crossref","is-referenced-by-count":10,"title":["Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy"],"prefix":"10.1515","volume":"28","author":[{"given":"Ilgar","family":"Mamedov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Zolkina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Nikolaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Glagovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Sukhorukov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref531","first-page":"2015","article-title":"Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency","author":"Hitomi","journal-title":"J Genet"},{"key":"ref561","first-page":"651","article-title":"Mitochondrial 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