Yubero, Dèlia, Montero, Raquel, O'Callaghan, Mar, Pineda, Mercè, Meavilla, Silvia, Delgadillo, Veronica, Sierra, Cristina, Altimira, Laura, Navas, Plácido, Pope, Simon, Oppenheim, Marcus, Neergheen, Viruna, Ghosh, Arunabha, Mills, Phillipa, Clayton, Peter, Footitt, Emma, Cleary, Maureen, Hargreaves, Iain, Jones, Simon A, Heales, Simon, Artuch, Rafael, 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, Rafael Artuch, O’Callaghan, Mar, Jones, Simon A.
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.
Pharmacology, Toxicology and Pharmaceutical Science
2
11%
Agricultural and Biological Sciences
2
11%
Nursing and Health Professions
2
11%
Other
0
0%
Unknown
2
11%
Attention Score in Context
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 July 2015.
All research outputs
#18,418,919
of 22,817,213 outputs
Outputs from JIMD Reports
#435
of 544 outputs
Outputs of similar age
#189,288
of 263,414 outputs
Outputs of similar age from JIMD Reports
#6
of 9 outputs
Altmetric has tracked 22,817,213 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 544 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 11th percentile – i.e., 11% of its peers scored the same or lower than it.
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We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.
