Regular ArticleFunctional Characterization of the Carnitine Transporter Defective in Primary Carnitine Deficiency☆
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2016, Biochimica et Biophysica Acta - Molecular Cell ResearchCitation Excerpt :At normal circulating concentrations (25–50 μM), carnitine is efficiently reabsorbed by active transport through the high affinity carnitine transporter called organic cation transporter novel 2 (OCTN2), localized in the renal brush border membrane [3,7,13–15]. As dietary intake of carnitine decreases, the efficiency of carnitine reabsorption increases; likewise, the rate of carnitine excretion increases rapidly and the efficiency of carnitine reabsorption decreases as the plasma concentration and filtered load of carnitine increases [15]. This homeostatic mechanism serves to maintain circulating carnitine concentrations in a relatively narrow range, allowing the excretion of excess carnitine, for example following ingestion of oral or intravenous carnitine supplements [7].
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2015, Molecular Genetics and MetabolismCitation Excerpt :Decreasing the carnitine dose may reduce this potential side-effect. If that does not improve the odor, then a course of oral metronidazole at a dose of 10 mg/kg/day for 7–10 days may be indicated [29–32]. Treatment with oral carnitine at these pharmacological doses can raise plasma carnitine level nearly to normal, but only increases muscle carnitine concentration to 5–10% of normal.
Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency
2011, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCarnitine: Transport and physiological functions in the brain
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Scriver, C. R.Beaudet, A. L.Sly, W. S.Valle, D.
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