Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency

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dc.authoridOzgul, Riza Koksal -- 0000-0002-0283-635X
dc.contributor.authorKılıç, M.
dc.contributor.authorÖzgÜl, R. K.
dc.contributor.authorCoşkun, T.
dc.contributor.authorYücel, D.
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorSivri, H. S.
dc.contributor.authorTokatlı, A.
dc.contributor.authorŞahin, M.
dc.contributor.authorKaragöz, T.
dc.contributor.authorDursun, A.
dc.date.accessioned13.07.201910:50:10
dc.date.accessioned2019-07-29T19:27:30Z
dc.date.available13.07.201910:50:10
dc.date.available2019-07-29T19:27:30Z
dc.date.issued2012
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
dc.description.abstractPrimary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused by mutations in the organic cation/carnitine transporter OCTN2 (SLC22A5) gene. Mutation analysis of SLC22A5 gene was carried out in eight Turkish patients from six families. Six patients presented with signs and symptoms of heart failure, cardiomyopathy, and low plasma carnitine levels, five of them with concurrent anemia. A patient with dilated cardiomyopathy had also facial dysmorphia, microcephaly, and developmental delay. Tandem MS analyses in siblings of the patients revealed two more cases with low plasma carnitine levels. SCD diagnosis was confirmed in these two cases by mutation screening. These two cases were asymptomatic but echocardiography revealed left ventricular dilatation in one of them. Carnitine treatment was started before the systemic signs and symptoms developed in these patients. Mean value of serum carnitine levels of the patients was 2.63 +/- 1.92 mu mol/L at the time of diagnosis. After 1 year of treatment, carnitine values increased to 16.62 +/- 5.11 (p < 0.001) and all responded to carnitine supplementation clinically. Mutation screening of the OCTN2 gene study in the patients revealed two novel (p.G411V, p.G152R), and four previously identified mutations (p.R254X, p.R282X, p.R289X, p.T337Pfs12X). Early recognition and carnitine supplementation can be lifesaving in this inborn error of fatty acid oxidation.
dc.identifier.doi10.1007/8904_2011_36
dc.identifier.doi10.1007/978-3-642-24936-5
dc.identifier.endpage23en_US
dc.identifier.isbn978-3-642-24936-5
dc.identifier.issn2192-8304
dc.identifier.pmid23430869
dc.identifier.scopusqualityQ2
dc.identifier.startpage17en_US
dc.identifier.urihttps://doi.org/10.1007/8904_2011_36
dc.identifier.urihttps://doi.org/10.1007/978-3-642-24936-5
dc.identifier.urihttps://hdl.handle.net/20.500.12451/5876
dc.identifier.volume3en_US
dc.identifier.wosWOS:000315963200004
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofJIMD Reports
dc.relation.ispartofseriesJIMD Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.titleIdentification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency
dc.typeArticle

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