Coenzyme Q 10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

Autor:	Yubero D; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Montero R; 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., O'Callaghan M; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Pineda M; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Meavilla S; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Delgadillo V; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Sierra C; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Altimira L; Clinical Chemistry, Gastroenterology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, 08950, Spain., Navas P; 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., Pope S; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Oppenheim M; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Neergheen V; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Ghosh A; Willink Unit, Manchester Centre for Genomic Medicine, CMFT, University of Manchester, Manchester, UK., Mills P; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK., Clayton P; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK., Footitt E; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK., Cleary M; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK., Hargreaves I; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Jones SA; Willink Unit, Manchester Centre for Genomic Medicine, CMFT, University of Manchester, Manchester, UK., Heales S; 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., Artuch R; 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.
Jazyk:	angličtina
Zdroj:	JIMD reports [JIMD Rep] 2016; Vol. 25, pp. 1-7. Date of Electronic Publication: 2015 Jul 24.
DOI:	10.1007/8904_2015_421
Abstrakt:	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 Q 10 (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.
Databáze:	MEDLINE
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