Abstract
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiencies of lysosomal enzymes catalyzing degradation of glycosaminoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q10 (CoQ) deficiency in MPS patients. For this study, nine MPS patients were recruited in the Hospital Sant Joan de Déu (HSJD, Barcelona) and two patients in the Neurometabolic Unit, National Hospital (NMU, London), to explore the nutritional status of MPS type III patients by analyzing several vitamins and micronutrients in blood and in cerebrospinal fluid. Plasma CoQ and plasma and cerebrospinal fluid pyridoxal phosphate (PLP) content were analyzed by high-pressure liquid chromatography (HPLC) with electrochemical and fluorescence detection, respectively. We found that most MPS-III patients disclosed low plasma pyridoxal phosphate (PLP) values (seven out of nine) and also low plasma CoQ concentrations (eight out of nine). We observed significantly lower median values of PLP, tocopherol, and CoQ (Mann–Whitney U test, p = 0.006, p = 0.004, and p = 0.001, respectively) in MPS patients when compared with age-matched controls. Chi-square test showed a significant association between the fact of having low plasma PLP and CoQ values in the whole cohort of patients. Cerebrospinal fluid PLP values were clearly deficient in the two patients studied. In conclusion, we report a combined CoQ and PLP deficiency in MPS-III patients. These observations could be related to the complexity of the physiopathology of the disease. If our results are confirmed in larger series of patients, CoQ and PLP therapy could be trialed as coadjuvant therapy with the current MPS treatments.
Competing interests: None declared
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Acknowledgments
This research was partially funded by grants PI11/02350, PI11/00078, PI1400028, and PI14-01962 from the Spanish Ministry of Health (Fondo de Investigación Sanitaria, Instituto de Salud Carlos III). We are very grateful for the support of the “MPS España” association.
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Communicated by: Marc Patterson
Appendices
Synopsis
Combined CoQ and PLP deficiency is common in MPS-III patients.
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Conflict of Interest
Dèlia Yubero, Raquel Montero, Mar O’Callaghan, Mercè Pineda, Silvia Meavilla, Veronica Delgadillo, Cristina Sierra, Laura Altimira, Plácido Navas, Simon Pope, Marcus Oppenheim, Viruna Neergheen, Arunabha Ghosh, Phillipa Mills, Peter Clayton, Emma Footitt, Maureen Cleary, Iain Hargreaves, Simon A. Jones, Simon Heales, and Rafael Artuch declare that they have no conflict of interest.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. Informed consent was obtained and must be available upon request.
Author Contributions
All co-authors have peer-reviewed the manuscript and there is a consensus agreement to submission. Thus, we confirm the absence of previous similar and simultaneous publications. Dr. Yubero, Montero, O’Callaghan, Heales, and Artuch had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
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Study concept and design: Yubero, Montero, O’Callaghan, Pineda, Hargreaves, Heales, and Artuch
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Acquisition of data: Yubero, Montero, O’Callaghan, Pineda, Meavilla, Delgadillo, Sierra, Altimira, Pope, Oppenheim, Neergheen, Ghosh, Mills, Clayton, Footitt, Cleary, Jones, and Heales
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Analysis and interpretation of data: Yubero, Montero, O’Callaghan, Navas, Mills, Clayton, Hargreaves, Heales, and Artuch
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Drafting of the manuscript: All authors
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Critical revision of the manuscript for important intellectual content: All authors
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Study supervision: Artuch
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Yubero, D. et al. (2015). Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 25. JIMD Reports, vol 25. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_421
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DOI: https://doi.org/10.1007/8904_2015_421
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