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pubmed-article:10783384pubmed:abstractTextPrimary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac myopathy. It is caused by mutations in the sodium-dependent carnitine cotransporter OCTN2. The majority of natural mutations identified in this and other Na(+)/solute symporters introduce premature termination codons or impair insertion of the mutant transporter on the plasma membrane. Here we report that a missense mutation (E452K) identified in one patient with primary carnitine deficiency did not affect membrane targeting, as assessed with confocal microscopy of transporters tagged with the green fluorescent protein, but reduced carnitine transport by impairing sodium stimulation of carnitine transport. The natural mutation increased the concentration of sodium required to half-maximally stimulate carnitine transport (K(Na)) from the physiological value of 11.6 to 187 mm. Substitution of Glu(452) with glutamine (E452Q), aspartate (E452D), or alanine (E452A) caused intermediate increases in the K(Na). Carnitine transport decreased exponentially with increased K(Na). The E452K mutation is the first natural mutation in a mammalian cotransporter affecting sodium-coupled solute transfer and identifies a novel domain of the OCTN2 cotransporter involved in transmembrane sodium/solute transfer.lld:pubmed
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pubmed-article:10783384pubmed:pagination20782-6lld:pubmed
pubmed-article:10783384pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:10783384pubmed:articleTitleAbnormal sodium stimulation of carnitine transport in primary carnitine deficiency.lld:pubmed
pubmed-article:10783384pubmed:affiliationDivision of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA.lld:pubmed
pubmed-article:10783384pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:10783384pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
pubmed-article:10783384pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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