Titre : Maladies lysosomiales

Maladies lysosomiales : Questions médicales fréquentes

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostique-t-on une maladie lysosomiale ?

Le diagnostic repose sur des tests génétiques, des analyses enzymatiques et des examens cliniques.
Maladies lysosomiales Diagnostic médical
#2

Quels tests sont utilisés pour le diagnostic ?

Des tests sanguins, des biopsies et des analyses d'urine peuvent être effectués.
Tests de laboratoire Biopsie
#3

Les symptômes aident-ils au diagnostic ?

Oui, les symptômes cliniques orientent souvent vers un diagnostic précoce.
Symptômes Diagnostic médical
#4

Les antécédents familiaux sont-ils importants ?

Oui, les antécédents familiaux peuvent indiquer un risque accru de maladies lysosomiales.
Antécédents familiaux Maladies héréditaires
#5

Peut-on diagnostiquer in utero ?

Oui, des tests génétiques peuvent être réalisés pendant la grossesse pour certaines maladies.
Diagnostic prénatal Maladies lysosomiales

Symptômes 5

#1

Quels sont les symptômes courants ?

Les symptômes incluent des troubles neurologiques, des problèmes cardiaques et des anomalies osseuses.
Symptômes Maladies lysosomiales
#2

Les symptômes varient-ils selon la maladie ?

Oui, chaque maladie lysosomiale présente des symptômes spécifiques et variés.
Variabilité des symptômes Maladies lysosomiales
#3

Y a-t-il des symptômes visibles ?

Certaines maladies peuvent provoquer des anomalies physiques visibles, comme des déformations.
Anomalies congénitales Malformations
#4

Les symptômes apparaissent-ils tôt ?

Les symptômes peuvent apparaître à la naissance ou durant l'enfance, selon la maladie.
Âge d'apparition Maladies lysosomiales
#5

Les symptômes sont-ils réversibles ?

Non, les symptômes sont généralement progressifs et irréversibles sans traitement.
Progression de la maladie Traitement

Prévention 5

#1

Peut-on prévenir les maladies lysosomiales ?

La prévention est limitée, mais le dépistage génétique peut aider à identifier les porteurs.
Prévention Dépistage génétique
#2

Le conseil génétique est-il utile ?

Oui, le conseil génétique aide les familles à comprendre les risques et les options.
Conseil génétique Maladies héréditaires
#3

Les vaccinations aident-elles à prévenir ces maladies ?

Non, les vaccinations ne préviennent pas les maladies lysosomiales, qui sont génétiques.
Vaccination Maladies génétiques
#4

Les tests de porteurs sont-ils recommandés ?

Oui, les tests de porteurs sont recommandés pour les couples à risque d'avoir un enfant atteint.
Tests de porteurs Prévention
#5

Y a-t-il des programmes de sensibilisation ?

Oui, des programmes de sensibilisation existent pour informer sur les maladies lysosomiales.
Sensibilisation Éducation à la santé

Traitements 5

#1

Quels traitements existent pour ces maladies ?

Les traitements incluent la thérapie enzymatique de remplacement et la gestion des symptômes.
Thérapie enzymatique Traitement symptomatique
#2

La thérapie génique est-elle une option ?

Oui, la thérapie génique est en cours d'étude pour certaines maladies lysosomiales.
Thérapie génique Recherche médicale
#3

Les traitements sont-ils curatifs ?

Non, les traitements visent à gérer les symptômes et à améliorer la qualité de vie.
Qualité de vie Traitement
#4

Y a-t-il des traitements expérimentaux ?

Oui, des essais cliniques testent de nouveaux traitements pour certaines maladies lysosomiales.
Essais cliniques Traitements expérimentaux
#5

Les traitements sont-ils accessibles ?

L'accès aux traitements peut varier selon les pays et les systèmes de santé.
Accès aux soins Système de santé

Complications 5

#1

Quelles complications peuvent survenir ?

Les complications incluent des troubles neurologiques, des problèmes cardiaques et des infections.
Complications Maladies lysosomiales
#2

Les complications sont-elles évitables ?

Certaines complications peuvent être gérées, mais beaucoup sont inévitables sans traitement.
Gestion des complications Traitement
#3

Les complications affectent-elles la qualité de vie ?

Oui, les complications peuvent gravement affecter la qualité de vie des patients.
Qualité de vie Complications
#4

Les complications sont-elles réversibles ?

Certaines complications peuvent être traitées, mais beaucoup sont irréversibles.
Traitement Complications
#5

Les complications varient-elles selon la maladie ?

Oui, chaque maladie lysosomiale a des complications spécifiques et variées.
Variabilité des complications Maladies lysosomiales

Facteurs de risque 5

#1

Quels sont les facteurs de risque ?

Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques.
Facteurs de risque Maladies héréditaires
#2

Les maladies lysosomiales sont-elles héréditaires ?

Oui, la plupart des maladies lysosomiales sont héréditaires et se transmettent génétiquement.
Hérédité Maladies lysosomiales
#3

Les origines ethniques influencent-elles le risque ?

Oui, certaines populations ont un risque accru en raison de la consanguinité ou de mutations fréquentes.
Origines ethniques Facteurs de risque
#4

Les facteurs environnementaux jouent-ils un rôle ?

Non, les maladies lysosomiales sont principalement causées par des facteurs génétiques.
Facteurs environnementaux Maladies génétiques
#5

Le dépistage préconceptionnel est-il conseillé ?

Oui, le dépistage préconceptionnel peut aider à identifier les couples à risque.
Dépistage préconceptionnel Conseil génétique
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{ "@type": "MedicalWebPage", "name": "Mucopolysaccharidose de type IV", "alternateName": "Mucopolysaccharidosis IV", "url": "https://questionsmedicales.fr/mesh/D009085", "about": { "@type": "MedicalCondition", "name": "Mucopolysaccharidose de type IV", "code": { "@type": "MedicalCode", "code": "D009085", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.595.600.655" } } }, { "@type": "MedicalWebPage", "name": "Mucopolysaccharidose de type VI", "alternateName": "Mucopolysaccharidosis VI", "url": "https://questionsmedicales.fr/mesh/D009087", "about": { "@type": "MedicalCondition", "name": "Mucopolysaccharidose de type VI", "code": { "@type": "MedicalCode", "code": "D009087", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.595.600.670" } } }, { "@type": "MedicalWebPage", "name": "Mucopolysaccharidose de type VII", "alternateName": "Mucopolysaccharidosis VII", "url": "https://questionsmedicales.fr/mesh/D016538", "about": { "@type": "MedicalCondition", "name": "Mucopolysaccharidose de type VII", "code": { "@type": "MedicalCode", "code": "D016538", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.595.600.675" } } } ] }, { "@type": "MedicalWebPage", "name": "Pycnodysostose", "alternateName": "Pycnodysostosis", "url": "https://questionsmedicales.fr/mesh/D058631", "about": { "@type": "MedicalCondition", "name": "Pycnodysostose", "code": { "@type": "MedicalCode", "code": "D058631", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.595.800" } } } ], "about": { "@type": "MedicalCondition", "name": "Maladies lysosomiales", "alternateName": "Lysosomal Storage Diseases", "code": { "@type": "MedicalCode", "code": "D016464", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Valeria De Pasquale", "url": "https://questionsmedicales.fr/author/Valeria%20De%20Pasquale", "affiliation": { "@type": "Organization", "name": "Department of Veterinary Medicine and Animal Productions, University of Naples Federico II, Via Federico Delpino 1, 80137 Naples, Italy." } }, { "@type": "Person", "name": "Luigi Michele Pavone", "url": "https://questionsmedicales.fr/author/Luigi%20Michele%20Pavone", "affiliation": { "@type": "Organization", "name": "Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy." } }, { "@type": "Person", "name": "Melania Scarcella", "url": "https://questionsmedicales.fr/author/Melania%20Scarcella", "affiliation": { "@type": "Organization", "name": "Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy." } }, { "@type": "Person", "name": "Valentina La Cognata", "url": "https://questionsmedicales.fr/author/Valentina%20La%20Cognata", "affiliation": { "@type": "Organization", "name": "Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy." } }, { "@type": "Person", "name": "Sebastiano Cavallaro", "url": "https://questionsmedicales.fr/author/Sebastiano%20Cavallaro", "affiliation": { "@type": "Organization", "name": "Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Molecular Trojan Horses for treating lysosomal storage diseases.", "datePublished": "2023-06-30", "url": "https://questionsmedicales.fr/article/37598508", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.ymgme.2023.107648" } }, { "@type": "ScholarlyArticle", "name": "New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.", "datePublished": "2023-06-15", "url": "https://questionsmedicales.fr/article/37373322", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/ijms241210177" } }, { "@type": "ScholarlyArticle", "name": "Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.", "datePublished": "2023-05-26", "url": "https://questionsmedicales.fr/article/37245481", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.ebiom.2023.104628" } }, { "@type": "ScholarlyArticle", "name": "A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases.", "datePublished": "2024-08-16", "url": "https://questionsmedicales.fr/article/39150784", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1073/pnas.2320257121" } }, { "@type": "ScholarlyArticle", "name": "Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease.", "datePublished": "2023-11-16", "url": "https://questionsmedicales.fr/article/37998376", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/cells12222641" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "Maladies métaboliques et nutritionnelles", "item": "https://questionsmedicales.fr/mesh/D009750" }, { "@type": "ListItem", "position": 3, "name": "Maladies métaboliques", "item": "https://questionsmedicales.fr/mesh/D008659" }, { "@type": "ListItem", "position": 4, "name": "Erreurs innées du métabolisme", "item": "https://questionsmedicales.fr/mesh/D008661" }, { "@type": "ListItem", "position": 5, "name": "Maladies lysosomiales", "item": "https://questionsmedicales.fr/mesh/D016464" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Maladies lysosomiales - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Maladies lysosomiales", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2026-05-12", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Maladies lysosomiales", "description": "Comment diagnostique-t-on une maladie lysosomiale ?\nQuels tests sont utilisés pour le diagnostic ?\nLes symptômes aident-ils au diagnostic ?\nLes antécédents familiaux sont-ils importants ?\nPeut-on diagnostiquer in utero ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Maladies lysosomiales", "description": "Quels sont les symptômes courants ?\nLes symptômes varient-ils selon la maladie ?\nY a-t-il des symptômes visibles ?\nLes symptômes apparaissent-ils tôt ?\nLes symptômes sont-ils réversibles ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Maladies lysosomiales", "description": "Peut-on prévenir les maladies lysosomiales ?\nLe conseil génétique est-il utile ?\nLes vaccinations aident-elles à prévenir ces maladies ?\nLes tests de porteurs sont-ils recommandés ?\nY a-t-il des programmes de sensibilisation ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Maladies lysosomiales", "description": "Quels traitements existent pour ces maladies ?\nLa thérapie génique est-elle une option ?\nLes traitements sont-ils curatifs ?\nY a-t-il des traitements expérimentaux ?\nLes traitements sont-ils accessibles ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Maladies lysosomiales", "description": "Quelles complications peuvent survenir ?\nLes complications sont-elles évitables ?\nLes complications affectent-elles la qualité de vie ?\nLes complications sont-elles réversibles ?\nLes complications varient-elles selon la maladie ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Maladies lysosomiales", "description": "Quels sont les facteurs de risque ?\nLes maladies lysosomiales sont-elles héréditaires ?\nLes origines ethniques influencent-elles le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLe dépistage préconceptionnel est-il conseillé ?", "url": "https://questionsmedicales.fr/mesh/D016464#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on une maladie lysosomiale ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests génétiques, des analyses enzymatiques et des examens cliniques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour le diagnostic ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests sanguins, des biopsies et des analyses d'urine peuvent être effectués." } }, { "@type": "Question", "name": "Les symptômes aident-ils au diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes cliniques orientent souvent vers un diagnostic précoce." } }, { "@type": "Question", "name": "Les antécédents familiaux sont-ils importants ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les antécédents familiaux peuvent indiquer un risque accru de maladies lysosomiales." } }, { "@type": "Question", "name": "Peut-on diagnostiquer in utero ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des tests génétiques peuvent être réalisés pendant la grossesse pour certaines maladies." } }, { "@type": "Question", "name": "Quels sont les symptômes courants ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles neurologiques, des problèmes cardiaques et des anomalies osseuses." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon la maladie ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, chaque maladie lysosomiale présente des symptômes spécifiques et variés." } }, { "@type": "Question", "name": "Y a-t-il des symptômes visibles ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Certaines maladies peuvent provoquer des anomalies physiques visibles, comme des déformations." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils tôt ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître à la naissance ou durant l'enfance, selon la maladie." } }, { "@type": "Question", "name": "Les symptômes sont-ils réversibles ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Non, les symptômes sont généralement progressifs et irréversibles sans traitement." } }, { "@type": "Question", "name": "Peut-on prévenir les maladies lysosomiales ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est limitée, mais le dépistage génétique peut aider à identifier les porteurs." } }, { "@type": "Question", "name": "Le conseil génétique est-il utile ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le conseil génétique aide les familles à comprendre les risques et les options." } }, { "@type": "Question", "name": "Les vaccinations aident-elles à prévenir ces maladies ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Non, les vaccinations ne préviennent pas les maladies lysosomiales, qui sont génétiques." } }, { "@type": "Question", "name": "Les tests de porteurs sont-ils recommandés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests de porteurs sont recommandés pour les couples à risque d'avoir un enfant atteint." } }, { "@type": "Question", "name": "Y a-t-il des programmes de sensibilisation ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des programmes de sensibilisation existent pour informer sur les maladies lysosomiales." } }, { "@type": "Question", "name": "Quels traitements existent pour ces maladies ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la thérapie enzymatique de remplacement et la gestion des symptômes." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la thérapie génique est en cours d'étude pour certaines maladies lysosomiales." } }, { "@type": "Question", "name": "Les traitements sont-ils curatifs ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Non, les traitements visent à gérer les symptômes et à améliorer la qualité de vie." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des essais cliniques testent de nouveaux traitements pour certaines maladies lysosomiales." } }, { "@type": "Question", "name": "Les traitements sont-ils accessibles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "L'accès aux traitements peut varier selon les pays et les systèmes de santé." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques, des problèmes cardiaques et des infections." } }, { "@type": "Question", "name": "Les complications sont-elles évitables ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais beaucoup sont inévitables sans traitement." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent gravement affecter la qualité de vie des patients." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être traitées, mais beaucoup sont irréversibles." } }, { "@type": "Question", "name": "Les complications varient-elles selon la maladie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, chaque maladie lysosomiale a des complications spécifiques et variées." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques." } }, { "@type": "Question", "name": "Les maladies lysosomiales sont-elles héréditaires ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la plupart des maladies lysosomiales sont héréditaires et se transmettent génétiquement." } }, { "@type": "Question", "name": "Les origines ethniques influencent-elles le risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines populations ont un risque accru en raison de la consanguinité ou de mutations fréquentes." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Non, les maladies lysosomiales sont principalement causées par des facteurs génétiques." } }, { "@type": "Question", "name": "Le dépistage préconceptionnel est-il conseillé ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage préconceptionnel peut aider à identifier les couples à risque." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale


Validation scientifique effectuée le 30/04/2026

Contenu vérifié selon les dernières recommandations médicales

Sous-catégories

39 au total
└─

Aspartylglucosaminurie

Aspartylglucosaminuria D054880 - C18.452.648.595.100
└─

Maladie de stockage des esters de cholestérol

Cholesterol Ester Storage Disease D015217 - C18.452.648.595.201
└─

Cystinose

Cystinosis D003554 - C18.452.648.595.377
└─

Maladies neurologiques de surcharge lysosomiale

Lysosomal Storage Diseases, Nervous System D020140 - C18.452.648.595.554
└─

Mannosidoses

Mannosidase Deficiency Diseases D044904 - C18.452.648.595.577
└─

Mucopolysaccharidoses

Mucopolysaccharidoses D009083 - C18.452.648.595.600
└─

Pycnodysostose

Pycnodysostosis D058631 - C18.452.648.595.800
└─└─

Maladie de Wolman

Wolman Disease D015223 - C18.452.648.595.201.500
└─└─

Fucosidose

Fucosidosis D005645 - C18.452.648.595.554.295
└─└─

Glycogénose de type II

Glycogen Storage Disease Type II D006009 - C18.452.648.595.554.340
└─└─

Mucolipidoses

Mucolipidoses D009081 - C18.452.648.595.554.590
└─└─

Maladie de surcharge en acide sialique

Sialic Acid Storage Disease D029461 - C18.452.648.595.554.810
└─└─

Sphingolipidoses

Sphingolipidoses D013106 - C18.452.648.595.554.825
└─└─

alpha-Mannosidose

alpha-Mannosidosis D008363 - C18.452.648.595.577.500
└─└─

bêta-Mannosidose

beta-Mannosidosis D044905 - C18.452.648.595.577.750
└─└─

Mucopolysaccharidose de type I

Mucopolysaccharidosis I D008059 - C18.452.648.595.600.640
└─└─

Mucopolysaccharidose de type II

Mucopolysaccharidosis II D016532 - C18.452.648.595.600.645
└─└─

Mucopolysaccharidose de type III

Mucopolysaccharidosis III D009084 - C18.452.648.595.600.650
└─└─

Mucopolysaccharidose de type IV

Mucopolysaccharidosis IV D009085 - C18.452.648.595.600.655
└─└─

Mucopolysaccharidose de type VI

Mucopolysaccharidosis VI D009087 - C18.452.648.595.600.670
└─└─

Mucopolysaccharidose de type VII

Mucopolysaccharidosis VII D016538 - C18.452.648.595.600.675
└─└─└─

Maladie de Fabry

Fabry Disease D000795 - C18.452.648.595.554.825.200
└─└─└─

Lipogranulomatose de Farber

Farber Lipogranulomatosis D055577 - C18.452.648.595.554.825.250
└─└─└─

Gangliosidoses

Gangliosidoses D005733 - C18.452.648.595.554.825.300
└─└─└─

Maladie de Gaucher

Gaucher Disease D005776 - C18.452.648.595.554.825.400
└─└─└─

Leucodystrophie à cellules globoïdes

Leukodystrophy, Globoid Cell D007965 - C18.452.648.595.554.825.590
└─└─└─

Maladies de Niemann-Pick

Niemann-Pick Diseases D009542 - C18.452.648.595.554.825.700
└─└─└─

Syndrome des histiocytes bleus de mer

Sea-Blue Histiocyte Syndrome D012618 - C18.452.648.595.554.825.775
└─└─└─

Sulfatidose

Sulfatidosis D052516 - C18.452.648.595.554.825.850
└─└─└─└─

Gangliosidoses à GM2

Gangliosidoses, GM2 D020143 - C18.452.648.595.554.825.300.300
└─└─└─└─

Gangliosidose à GM1

Gangliosidosis, GM1 D016537 - C18.452.648.595.554.825.300.400
└─└─└─└─

Maladie de Niemann-Pick de type A

Niemann-Pick Disease, Type A D052536 - C18.452.648.595.554.825.700.500
└─└─└─└─

Maladie de Niemann-Pick de type B

Niemann-Pick Disease, Type B D052537 - C18.452.648.595.554.825.700.750
└─└─└─└─

Maladie de Niemann-Pick de type C

Niemann-Pick Disease, Type C D052556 - C18.452.648.595.554.825.700.875
└─└─└─└─

Leucodystrophie métachromatique

Leukodystrophy, Metachromatic D007966 - C18.452.648.595.554.825.850.500
└─└─└─└─

Déficit multiple en sulfatases

Multiple Sulfatase Deficiency Disease D052517 - C18.452.648.595.554.825.850.750
└─└─└─└─└─

Maladie de Sandhoff

Sandhoff Disease D012497 - C18.452.648.595.554.825.300.300.800
└─└─└─└─└─

Maladie de Tay-Sachs

Tay-Sachs Disease D013661 - C18.452.648.595.554.825.300.300.840
└─└─└─└─└─

Maladie de Tay-Sachs variante AB

Tay-Sachs Disease, AB Variant D049290 - C18.452.648.595.554.825.300.300.920

Auteurs principaux

Valeria De Pasquale

4 publications dans cette catégorie

Affiliations :
  • Department of Veterinary Medicine and Animal Productions, University of Naples Federico II, Via Federico Delpino 1, 80137 Naples, Italy.

Luigi Michele Pavone

4 publications dans cette catégorie

Affiliations :
  • Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

Melania Scarcella

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

Valentina La Cognata

3 publications dans cette catégorie

Affiliations :
  • Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.

Sebastiano Cavallaro

3 publications dans cette catégorie

Affiliations :
  • Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.

Estera Rintz

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.

Ellen Sidransky

3 publications dans cette catégorie

Affiliations :
  • Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: sidranse@mail.nih.gov.
Publications dans "Maladies lysosomiales" :

Nina Raben

2 publications dans cette catégorie

Affiliations :
  • Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Frances M Platt

2 publications dans cette catégorie

Affiliations :
  • Department of Pharmacology, University of Oxford, Oxford, UK. frances.platt@pharm.ox.ac.uk.
Publications dans "Maladies lysosomiales" :

Cynthia J Tifft

2 publications dans cette catégorie

Affiliations :
  • Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Publications dans "Maladies lysosomiales" :

Gustavo H B Maegawa

2 publications dans cette catégorie

Affiliations :
  • 1 University of Florida, Departments of Pediatrics, Division of Genetics and Metabolism, Neuroscience and Molecular Genetics & Microbiology, Gainesville, FL, USA.
Publications dans "Maladies lysosomiales" :

Gianluca Scerra

2 publications dans cette catégorie

Affiliations :
  • Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

Massimo D'Agostino

2 publications dans cette catégorie

Affiliations :
  • Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

Giancarlo Parenti

2 publications dans cette catégorie

Affiliations :
  • Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

Andrés Felipe Leal

2 publications dans cette catégorie

Affiliations :
  • Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Room 305A, Bogotá D.C, 110231, Colombia.
Publications dans "Maladies lysosomiales" :

Carlos Javier Alméciga-Díaz

2 publications dans cette catégorie

Affiliations :
  • Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Room 305A, Bogotá D.C, 110231, Colombia. cjalmeciga@javeriana.edu.co.
Publications dans "Maladies lysosomiales" :

Roberto Giugliani

2 publications dans cette catégorie

Affiliations :
  • Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Publications dans "Maladies lysosomiales" :

Ursula Matte

2 publications dans cette catégorie

Affiliations :
  • Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
  • Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Publications dans "Maladies lysosomiales" :

Shunji Tomatsu

2 publications dans cette catégorie

Affiliations :
  • Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland; Faculty of Arts and Sciences, University of Delaware, Newark, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: shunji.tomatsu@nemours.com.
Publications dans "Maladies lysosomiales" :

Mehmet Gunduz

2 publications dans cette catégorie

Affiliations :
  • Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey.
Publications dans "Maladies lysosomiales" :

Sources (10000 au total)

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.

The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previo... An immunopurification strategy was used to isolate intact LE/Lys from frozen autopsy brain samples. LE/Lys isolated from samples of JNCL patients were compared with age-matched unaffected controls and... Lipid and protein profiles of LE/Lys isolated from JNCL patients were profoundly altered compared to controls. Importantly, cholesterol accumulated in LE/Lys of JNCL samples to a comparable extent tha... Our results support that JNCL is a lysosomal cholesterol storage disorder. Our findings also support that JNCL and NPC disease share pathogenic pathways leading to aberrant lysosomal accumulation of l... San Francisco Foundation....

Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.

In many countries, adult clinics specifically dedicated to adult patients with lysosomal storage diseases (LSDs) do not exist. In Turkey, these patients are managed either by pediatric metabolic speci... The focus group participants were 24 adult LSD patients. Interviews were conducted in person.... A total of 23 LSD patients and parents of a patient with mucopolysaccharidosis type-3b with intellectual deficit were interviewed, with 84.6% of patients diagnosed after the age of 18 years and 18% of... With improved care, more patients with LSDs survive into adulthood or receive the diagnosis in adulthood. Children with chronic diseases need to transition to the care of adult physicians when they re...

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese po... To evaluate the birth prevalence of the 6 LSDs in the Shanghai population and determine subclinical forms based on clinical, biochemical, and genetic characteristics.... This cohort study included 50 108 newborns recruited from 41 hospitals in Shanghai between January and December 2021 who were screened for 6 LSDs using tandem mass spectrometry (MS/MS). Participants w... All participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots.... Primary outcomes were the birth prevalence and subclinical forms of the 6 LSDs in the Shanghai population. Disease biomarker measurements, genetic testing, and clinical analysis were used to assess cl... Among 50 108 newborns (26 036 male [52.0%]; mean [SD] gestational age, 38.8 [1.6] weeks), the mean (SD) birth weight was 3257 (487) g. The MS/MS-based NBS identified 353 newborns who were positive. Of... In this study, the combined birth prevalence of the 6 LSDs in Shanghai was remarkably high. MS/MS-based newborn screening, combined with biochemical and molecular genetic analysis, successfully identi...

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.

Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited evidence is available on patient preferences for gene therapy in this populatio... A survey including the probabilistic threshold technique was developed in which respondents were asked to choose between gene therapy and the current standard of care. The attributes included to estab... A total of 85 surveys were completed (15 Gaucher disease respondents, 62 Fabry disease respondents (17 self-identifying male), eight parents of ten people with mucopolysaccharidosis type III). Disease... People affected by a lysosomal storage disease associated with a poorer prognosis and less effective current treatment options trended towards more risk tolerance when choosing between gene therapy an...

SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.

Spinocerebellar ataxia 34 (SCA34) is a late-onset progressive ataxia caused by a mutation in ELOVL4, a gene involved in the biosynthesis of very long-chain fatty acids (VLCFAs). We performed post-mort...

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.

The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacologic...