title: Coenzyme Q10and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
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.
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Dèlia
authors.initials: D
authors.lastname: Yubero
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.|Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Mar
authors.initials: M
authors.lastname: O'Callaghan
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Mercè
authors.initials: M
authors.lastname: Pineda
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Meavilla
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Veronica
authors.initials: V
authors.lastname: Delgadillo
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Sierra
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Altimira
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.|Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain.
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
authors.affiliation: Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Pope
authors.affiliation: Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Marcus
authors.initials: M
authors.lastname: Oppenheim
authors.affiliation: Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Viruna
authors.initials: V
authors.lastname: Neergheen
authors.affiliation: Willink Unit, Manchester Centre for Genomic Medicine, CMFT, University of Manchester, Manchester, UK.
authors.forename: Arunabha
authors.initials: A
authors.lastname: Ghosh
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Phillipa
authors.initials: P
authors.lastname: Mills
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Clayton
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: Footitt
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Maureen
authors.initials: M
authors.lastname: Cleary
authors.affiliation: Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Iain
authors.initials: I
authors.lastname: Hargreaves
authors.affiliation: Willink Unit, Manchester Centre for Genomic Medicine, CMFT, University of Manchester, Manchester, UK.
authors.forename: Simon A
authors.initials: SA
authors.lastname: Jones
authors.affiliation: Chemical Pathology, Great Ormond Street Hospital, London, UK.|Neurometabolic Unit, National Hospital, Queen Square, London, UK.|Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Heales
authors.affiliation: Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain. rartuch@hsjdbcn.org.|Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. rartuch@hsjdbcn.org.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch