Secondary Carnitine Deficiency in Dialysis Patients: Shall We Supplement It?

Summary of presentations from the Sigma-Tau Pharma International Sponsored Symposium, held at the 53rd Congress of the European Renal Association and European Dialysis and Transplant Association (ERA-EDTA) in Vienna, Austria, on 24th May 2016

Chairs: Ronald J.A. Wanders,1 Tim Ulinski2
Speakers: Ronald J.A. Wanders,1 Stephanie E. Reuter,3 Asha Moudgil4

1. Laboratory Genetic Metabolic Diseases, Department of Paediatrics & Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
2. Department of Paediatric Nephrology, Armand Trousseau Hospital and University Paris 6, Paris, France
3. School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia
4. Division of Nephrology, Children’s National Health System, Washington DC, USA

Disclosure: Asha Moudgil has received honoraria and financial support from Sigma-Tau Pharmaceuticals, Inc. for clinical trial NCT01941823. Ronald J.A. Wanders and Stephanie E. Reuter have declared no conflicts of interest.
Acknowledgements: Writing assistance was provided by Jackie Phillipson of Ashfield Healthcare Communications Ltd.
Support: The publication of this article was funded by Sigma-Tau Pharma International Unit – Alfasigma group. The views and opinions expressed are those of the speakers and not necessarily of Sigma-Tau Pharma International Unit – Alfasigma group.
Citation: EMJ Nephrol. 2016;4[1]:42-51.

Meeting Summary

Carnitine, essential for fatty acid β-oxidation, is obtained from diet and through de novo biosynthesis. The organic cation/carnitine transporter 2 (OCTN2) facilitates carnitine cellular transport and kidney resorption. Carnitine depletion occurs in OCTN2-deficient patients, with serious clinical complications including cardiomyopathy, myopathy, and hypoketotic hypoglycaemia. Neonatal screening can detect OCTN2 deficiency. OCTN2-deficiency is also known as primary carnitine deficiency. Carnitine deficiency may result from fatty acid β-oxidation disorders, which are diagnosed via plasma acylcarnitine profiling, but also under other conditions including haemodialysis.

Given the importance of the kidney in maintaining carnitine homeostasis, it is not unexpected that longterm haemodialysis treatment is associated with the development of secondary carnitine deficiency, characterised by low endogenous L-carnitine levels and accumulation of deleterious medium and long- chain acylcarnitines. These alterations in carnitine pool composition have been implicated in a number of dialysis-related disorders, including erythropoietin-resistant renal anaemia. The association between erythropoietin resistance and carnitine levels has been demonstrated, with the proportion of medium and long-chain acylcarnitines within the total plasma carnitine pool positively correlated with erythropoietin resistance. Recent research has demonstrated that carnitine supplementation results in a significant reduction in erythropoietin dose requirements in patients with erythropoietin-resistant anaemia.

Few studies have been conducted assessing the treatment of carnitine deficiency and haemodialysisrelated cardiac complications, particularly in children. Thus, a study was recently conducted which showed that intravenous carnitine in children receiving haemodialysis significantly increased plasma carnitine.

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