Affiliations: Department of General Pediatrics, Division of Inborn
Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany | Vestische Kinderklinik Datteln, University
Witten/Herdecke, Datteln, Germany
Note: [] Address for correspondence: Dr.~Dorothea Haas, University
Hospital for Pediatric and Adolescent Medicine, Department of General
Pediatrics, Division of Inborn Metabolic Diseases, Im Neuenheimer Feld 153,
D-69120 Heidelberg, Germany. Tel.: +49 6221 5639330; Fax: +49 6221 565565;
E-mail: [email protected]
Abstract: Introduction: SLOS is caused by a defect of cholesterol synthesis.
HMG-CoA reductase inhibitors have been shown to improve biochemical parameters
in this condition, but they have also been associated with CoQ_{10}
deficiency in patients with hypercholesterolemia. The aim of this study was to
analyse plasma and intracellular CoQ_{10} levels in SLOS patients and to
determine the influence of HMG-CoA reductase inhibitors. Methods: Plasma concentrations of CoQ_{10} and vitamin E
were measured in 14 patients, intracellular CoQ_{10} levels were determined
in platelets of 10 patients with SLOS and compared to controls. Results: Plasma CoQ_{10} and vitamin E levels were
significantly lower in SLOS patients. This difference equalised after
adjustment to cholesterol concentrations. Treatment with simvastatin did not
influence CoQ_{10} levels and redox status. Platelet CoQ_{10}
concentrations were similar between patients and controls but there were
striking differences in the CoQ_{10} redox status with a decrease of oxidised
CoQ_{10}. Conclusion: Decreased concentrations of plasma CoQ_{10} and
vitamin E in SLOS patients are due to a diminished carrier capacity. The higher
percentage of reduced CoQ_{10} in platelets points to an up-regulation of
mitochondrial protection mechanisms. Further studies are needed to evaluate a
possible benefit of CoQ_{10} supplementation in SLOS patients.
