questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Maladies lysosomiales
Mucopolysaccharidoses
Mucopolysaccharidoses : Questions médicales fréquentes
Diagnostic
5
Mucopolysaccharidoses
Diagnostic médical
Tests de laboratoire
Mucopolysaccharidoses
Échographie
Mucopolysaccharidoses
Retard de développement
Mucopolysaccharidoses
Tests génétiques
Mucopolysaccharidoses
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5
Symptômes
Mucopolysaccharidoses
Cataracte
Mucopolysaccharidoses
Anomalies cutanées
Mucopolysaccharidoses
Perte auditive
Mucopolysaccharidoses
Troubles cognitifs
Mucopolysaccharidoses
Prévention
5
Prévention
Mucopolysaccharidoses
Dépistage prénatal
Mucopolysaccharidoses
Conseils génétiques
Mucopolysaccharidoses
Tests de porteurs
Mucopolysaccharidoses
Surveillance médicale
Mucopolysaccharidoses
Traitements
5
Thérapie enzymatique
Mucopolysaccharidoses
Chirurgie
Mucopolysaccharidoses
Médicaments
Mucopolysaccharidoses
Physiothérapie
Mucopolysaccharidoses
Thérapie génique
Mucopolysaccharidoses
Complications
5
Complications
Mucopolysaccharidoses
Retard de croissance
Mucopolysaccharidoses
Infections
Mucopolysaccharidoses
Problèmes dentaires
Mucopolysaccharidoses
Troubles psychologiques
Mucopolysaccharidoses
Facteurs de risque
5
Facteurs de risque
Mucopolysaccharidoses
Hérédité
Mucopolysaccharidoses
Parents porteurs
Mucopolysaccharidoses
Groupes ethniques
Mucopolysaccharidoses
Facteurs environnementaux
Mucopolysaccharidoses
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"position": 18,
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"name": "La physiothérapie est-elle recommandée ?",
"position": 19,
"acceptedAnswer": {
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"text": "Oui, la physiothérapie aide à améliorer la mobilité et la qualité de vie."
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"position": 23,
"acceptedAnswer": {
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"position": 24,
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}
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"name": "Quels sont les facteurs de risque des mucopolysaccharidoses ?",
"position": 26,
"acceptedAnswer": {
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"text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
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"@type": "Question",
"name": "Les mucopolysaccharidoses sont-elles héréditaires ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles sont généralement transmises de manière autosomique récessive."
}
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"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Oui, les parents porteurs d'une mutation peuvent transmettre la maladie à leurs enfants."
}
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"@type": "Question",
"name": "Y a-t-il des groupes ethniques à risque ?",
"position": 29,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 30,
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"text": "Non, les mucopolysaccharidoses sont principalement causées par des facteurs génétiques."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 22/01/2026
Contenu vérifié selon les dernières recommandations médicales
13 publications dans cette catégorie
Affiliations :
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
12 publications dans cette catégorie
Affiliations :
Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.
Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
INAGEMP, Porto Alegre 90035-903, Brazil.
Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil.
Postgraduate Program in Medicine, Clinical Sciences, UFRGS, Porto Alegre 90035-003, Brazil.
7 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
6 publications dans cette catégorie
Affiliations :
Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland.
6 publications dans cette catégorie
Affiliations :
Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland.
6 publications dans cette catégorie
Affiliations :
Laboratório Células, Tecidos e Genes do Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
6 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.
6 publications dans cette catégorie
Affiliations :
Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.
6 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Shimane University, Izumo 693-8501, Japan.
5 publications dans cette catégorie
Affiliations :
Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.
Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
INAGEMP, Porto Alegre 90035-903, Brazil.
Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035-903, Brazil.
Publications dans "Mucopolysaccharidoses" :
5 publications dans cette catégorie
Affiliations :
Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. grzegorz.wegrzyn@biol.ug.edu.pl.
Publications dans "Mucopolysaccharidoses" :
5 publications dans cette catégorie
Affiliations :
Nemours Children's Health, Wilmington, DE, United States.
Publications dans "Mucopolysaccharidoses" :
5 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Shimane University, Izumo 693-8501, Japan.
Publications dans "Mucopolysaccharidoses" :
5 publications dans cette catégorie
Affiliations :
Medical Education Development Center, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland. Electronic address: estera.rintz@ug.edu.pl.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Gene Therapy Center, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-007, Brazil.
Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Mackay Memorial Hospital, Hsinchu, Taiwan.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Publications dans "Mucopolysaccharidoses" :
4 publications dans cette catégorie
Affiliations :
Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Rd, Wilmington, DE, 19899-0269, USA.
Department of Biological Sciences, University of Delaware, Newark, DE, USA.
Publications dans "Mucopolysaccharidoses" :
To systematically review the literature and summarize the health-related quality-of-life (HRQoL) of patients undergoing treatment for mucopolysaccharidoses (MPS), a rare, hereditary lysosomal storage ...
A systematic review was performed in accordance with PRISMA guidelines to identify research studies that describe the humanistic burden of MPS. A comprehensive literature search was conducted in EMBAS...
Of 870 identified articles, 15 studies reported the HRQoL burden of patients with MPS undergoing or with a history of ERT and/or HSCT. These studies include patients of MPS I (...
This systematic literature review revealed the substantial humanistic burden of individuals affected by MPS as well as caregivers. Significant variation in HRQoL scores was observed, however studies i...
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and ...
Mucopolysaccharidoses (MPSs) are inherited genetic diseases caused by an absence or deficiency of lysosomal enzymes responsible for catabolizing glycosaminoglycans (GAGs). Undiagnosed patients, or tho...
Urine samples from 37 MPS patients (types I, II, III, IV, and VI; untreated and treated with enzyme replacement therapy (ERT)) and 38 controls were analyzed by LC-HRMS. Data were processed by an untar...
A total of 12 increased metabolites common to all MPS types were identified. Dipeptides, amino acids and derivatives were increased in the MPS group compared to controls. N-acetylgalactosamines 4- or ...
Untargeted metabolomics has enabled the detection of metabolites that could improve our understanding of MPS physiopathology. These potential biomarkers can be utilized in screening methods to support...
In recent years, several rational designed therapies have been developed for treatment of mucopolysaccharidoses (MPS), a group of inherited metabolic disorders in which glycosaminoglycans (GAGs) are a...
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSD) caused by mutations in genes coding for enzymes responsible for degradation of glycosaminoglycans (GAGs). Most types of thes...
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the ...
The mucopolysaccharidoses (MPS) are a family of inborn errors of metabolism resulting from a deficiency in a lysosomal hydrolase responsible for the degradation of glycosaminoglycans (GAG). From a bio...
Newborn screening (NBS) for the full set of mucopolysaccharidoses (MPSs) is now possible by either measuring all of the relevant enzymatic activities in dried blood spots (DBS) using tandem mass spect...
Mucopolysaccharidoses are inherited metabolic diseases caused by mutations in genes encoding enzymes required for degradation of glycosaminoglycans. A lack or severe impairment of activity of these en...
Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limita...