Titre : Erreurs innées du métabolisme lipidique

Erreurs innées du métabolisme lipidique : Questions médicales fréquentes

Termes MeSH sélectionnés :

Transcriptome
{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Erreurs innées du métabolisme lipidique : Questions médicales les plus fréquentes", "headline": "Erreurs innées du métabolisme lipidique : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Erreurs innées du métabolisme lipidique : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-05-12", "dateModified": "2025-05-07", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Erreurs innées du métabolisme lipidique" }, "suggestedMinAge": 18, "suggestedGender": "unisex" }, { "@type": "MedicalAudience", "name": "Médecins", "audienceType": "Physician", "geographicArea": { "@type": "AdministrativeArea", "name": "France" } }, { "@type": "MedicalAudience", "name": "Chercheurs", "audienceType": "Researcher", "geographicArea": { "@type": "AdministrativeArea", "name": "International" } } ], "reviewedBy": { "@type": "Person", "name": "Dr Olivier Menir", "jobTitle": "Expert en Médecine", "description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale", "url": "/static/pages/docteur-olivier-menir.html", "alumniOf": { "@type": "EducationalOrganization", "name": "Université Paris Descartes" } }, "isPartOf": { "@type": "MedicalWebPage", "name": "Erreurs innées du métabolisme", "url": "https://questionsmedicales.fr/mesh/D008661", "about": { "@type": "MedicalCondition", "name": "Erreurs innées du métabolisme", "code": { "@type": "MedicalCode", "code": "D008661", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648" } } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Syndrome de Barth", "alternateName": "Barth Syndrome", "url": "https://questionsmedicales.fr/mesh/D056889", "about": { "@type": "MedicalCondition", "name": "Syndrome de Barth", "code": { "@type": "MedicalCode", "code": "D056889", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.224" } } }, { "@type": "MedicalWebPage", "name": "Hyperlipidémie familiale mixte", "alternateName": "Hyperlipidemia, Familial Combined", "url": "https://questionsmedicales.fr/mesh/D006950", "about": { "@type": "MedicalCondition", "name": "Hyperlipidémie familiale mixte", "code": { "@type": "MedicalCode", "code": "D006950", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.450" } } }, { "@type": "MedicalWebPage", "name": "Hyperlipoprotéinémie de type I", "alternateName": "Hyperlipoproteinemia Type I", "url": "https://questionsmedicales.fr/mesh/D008072", "about": { "@type": "MedicalCondition", "name": "Hyperlipoprotéinémie de type I", "code": { "@type": "MedicalCode", "code": "D008072", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.465" } } }, { "@type": "MedicalWebPage", "name": "Hyperlipoprotéinémie de type II", "alternateName": "Hyperlipoproteinemia Type II", "url": "https://questionsmedicales.fr/mesh/D006938", "about": { "@type": "MedicalCondition", "name": "Hyperlipoprotéinémie de type II", "code": { "@type": "MedicalCode", "code": "D006938", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.481" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Hypercholestérolémie familiale homozygote", "alternateName": "Homozygous Familial Hypercholesterolemia", "url": "https://questionsmedicales.fr/mesh/D000090542", "about": { "@type": "MedicalCondition", "name": "Hypercholestérolémie familiale homozygote", "code": { "@type": "MedicalCode", "code": "D000090542", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.481.500" } } } ] }, { "@type": "MedicalWebPage", "name": "Hyperlipoprotéinémie de type III", "alternateName": "Hyperlipoproteinemia Type III", "url": "https://questionsmedicales.fr/mesh/D006952", "about": { "@type": "MedicalCondition", "name": "Hyperlipoprotéinémie de type III", "code": { "@type": "MedicalCode", "code": "D006952", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.483" } } }, { "@type": "MedicalWebPage", "name": "Hyperlipoprotéinémie de type IV", "alternateName": "Hyperlipoproteinemia Type IV", "url": "https://questionsmedicales.fr/mesh/D006953", "about": { "@type": "MedicalCondition", "name": "Hyperlipoprotéinémie de type IV", "code": { "@type": "MedicalCode", "code": "D006953", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.487" } } }, { "@type": "MedicalWebPage", "name": "Hyperlipoprotéinémie de type V", "alternateName": "Hyperlipoproteinemia Type V", "url": "https://questionsmedicales.fr/mesh/D006954", "about": { "@type": "MedicalCondition", "name": "Hyperlipoprotéinémie de type V", "code": { "@type": "MedicalCode", "code": "D006954", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.493" } } }, { "@type": "MedicalWebPage", "name": "Hypolipoprotéinémies", "alternateName": "Hypolipoproteinemias", "url": "https://questionsmedicales.fr/mesh/D007009", "about": { "@type": "MedicalCondition", "name": "Hypolipoprotéinémies", "code": { "@type": "MedicalCode", "code": "D007009", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Hypoalphalipoprotéinémies", "alternateName": "Hypoalphalipoproteinemias", "url": "https://questionsmedicales.fr/mesh/D052456", "about": { "@type": "MedicalCondition", "name": "Hypoalphalipoprotéinémies", "code": { "@type": "MedicalCode", "code": "D052456", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.330" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Déficit en lécithine-cholestérol-acyl-transférase", "alternateName": "Lecithin Cholesterol Acyltransferase Deficiency", "url": "https://questionsmedicales.fr/mesh/D007863", "about": { "@type": "MedicalCondition", "name": "Déficit en lécithine-cholestérol-acyl-transférase", "code": { "@type": "MedicalCode", "code": "D007863", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.330.500" } } }, { "@type": "MedicalWebPage", "name": "Maladie de Tangier", "alternateName": "Tangier Disease", "url": "https://questionsmedicales.fr/mesh/D013631", "about": { "@type": "MedicalCondition", "name": "Maladie de Tangier", "code": { "@type": "MedicalCode", "code": "D013631", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.330.750" } } } ] }, { "@type": "MedicalWebPage", "name": "Déficit en lécithine-cholestérol-acyl-transférase", "alternateName": "Lecithin Cholesterol Acyltransferase Deficiency", "url": "https://questionsmedicales.fr/mesh/D007863", "about": { "@type": "MedicalCondition", "name": "Déficit en lécithine-cholestérol-acyl-transférase", "code": { "@type": "MedicalCode", "code": "D007863", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.330.500" } } }, { "@type": "MedicalWebPage", "name": "Maladie de Tangier", "alternateName": "Tangier Disease", "url": "https://questionsmedicales.fr/mesh/D013631", "about": { "@type": "MedicalCondition", "name": "Maladie de Tangier", "code": { "@type": "MedicalCode", "code": "D013631", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.330.750" } } }, { "@type": "MedicalWebPage", "name": "Hypobêtalipoprotéinémies", "alternateName": "Hypobetalipoproteinemias", "url": "https://questionsmedicales.fr/mesh/D006995", "about": { "@type": "MedicalCondition", "name": "Hypobêtalipoprotéinémies", "code": { "@type": "MedicalCode", "code": "D006995", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.440" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Abêtalipoprotéinémie", "alternateName": "Abetalipoproteinemia", "url": "https://questionsmedicales.fr/mesh/D000012", "about": { "@type": "MedicalCondition", "name": "Abêtalipoprotéinémie", "code": { "@type": "MedicalCode", "code": "D000012", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.440.500" } } } ] }, { "@type": "MedicalWebPage", "name": "Abêtalipoprotéinémie", "alternateName": "Abetalipoproteinemia", "url": "https://questionsmedicales.fr/mesh/D000012", "about": { "@type": "MedicalCondition", "name": "Abêtalipoprotéinémie", "code": { "@type": "MedicalCode", "code": "D000012", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.500.440.500" } } } ] }, { "@type": "MedicalWebPage", "name": "Lipidoses", "alternateName": "Lipidoses", "url": "https://questionsmedicales.fr/mesh/D008064", "about": { "@type": "MedicalCondition", "name": "Lipidoses", "code": { "@type": "MedicalCode", "code": "D008064", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.641" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Céroïdes-lipofuscinoses neuronales", "alternateName": "Neuronal Ceroid-Lipofuscinoses", "url": "https://questionsmedicales.fr/mesh/D009472", "about": { "@type": "MedicalCondition", "name": "Céroïdes-lipofuscinoses neuronales", "code": { "@type": "MedicalCode", "code": "D009472", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.641.509" } } }, { "@type": "MedicalWebPage", "name": "Syndrome de Sjögren-Larsson", "alternateName": "Sjogren-Larsson Syndrome", "url": "https://questionsmedicales.fr/mesh/D016111", "about": { "@type": "MedicalCondition", "name": "Syndrome de Sjögren-Larsson", "code": { "@type": "MedicalCode", "code": "D016111", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.641.723" } } } ] }, { "@type": "MedicalWebPage", "name": "Xanthomatose cérébrotendineuse", "alternateName": "Xanthomatosis, Cerebrotendinous", "url": "https://questionsmedicales.fr/mesh/D019294", "about": { "@type": "MedicalCondition", "name": "Xanthomatose cérébrotendineuse", "code": { "@type": "MedicalCode", "code": "D019294", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.648.398.925" } } } ], "about": { "@type": "MedicalCondition", "name": "Erreurs innées du métabolisme lipidique", "alternateName": "Lipid Metabolism, Inborn Errors", "code": { "@type": "MedicalCode", "code": "D008052", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Carlos R Ferreira", "url": "https://questionsmedicales.fr/author/Carlos%20R%20Ferreira", "affiliation": { "@type": "Organization", "name": "Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States." } }, { "@type": "Person", "name": "Clara D M van Karnebeek", "url": "https://questionsmedicales.fr/author/Clara%20D%20M%20van%20Karnebeek", "affiliation": { "@type": "Organization", "name": "Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amstedarmumc.nl." } }, { "@type": "Person", "name": "Jerry Vockley", "url": "https://questionsmedicales.fr/author/Jerry%20Vockley", "affiliation": { "@type": "Organization", "name": "Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania, USA." } }, { "@type": "Person", "name": "Andrea L Gropman", "url": "https://questionsmedicales.fr/author/Andrea%20L%20Gropman", "affiliation": { "@type": "Organization", "name": "Department of Neurology, Children's National, Washington, DC 20010, USA." } }, { "@type": "Person", "name": "Sumreena Mansoor", "url": "https://questionsmedicales.fr/author/Sumreena%20Mansoor", "affiliation": { "@type": "Organization", "name": "Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-millat university, H-8/4, Islamabad, Pakistan. dr.sumreena@gmail.com." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Different Transcriptomic Response to", "datePublished": "2022-07-07", "url": "https://questionsmedicales.fr/article/35873155", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3389/fcimb.2022.904747" } }, { "@type": "ScholarlyArticle", "name": "Transcriptome Sequencing of the Diatom", "datePublished": "2023-02-15", "url": "https://questionsmedicales.fr/article/36827167", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/md21020126" } }, { "@type": "ScholarlyArticle", "name": "Transcriptome-Wide m", "datePublished": "2022-09-14", "url": "https://questionsmedicales.fr/article/36142590", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/ijms231810674" } }, { "@type": "ScholarlyArticle", "name": "Transcriptome and Metabonomic Analysis of", "datePublished": "2022-07-23", "url": "https://questionsmedicales.fr/article/35893048", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/genes13081313" } }, { "@type": "ScholarlyArticle", "name": "Transcriptomic Profile Analysis of", "datePublished": "2022-06-08", "url": "https://questionsmedicales.fr/article/35741794", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3390/genes13061032" } } ], "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": "Erreurs innées du métabolisme lipidique", "item": "https://questionsmedicales.fr/mesh/D008052" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Erreurs innées du métabolisme lipidique - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Erreurs innées du métabolisme lipidique", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-11", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Erreurs innées du métabolisme lipidique", "description": "Comment diagnostique-t-on une erreur métabolique lipidique ?\nQuels tests sont utilisés pour le diagnostic ?\nLes symptômes aident-ils au diagnostic ?\nQuelle est l'importance de l'histoire familiale ?\nPeut-on utiliser l'imagerie pour le diagnostic ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Erreurs innées du métabolisme lipidique", "description": "Quels sont les symptômes courants ?\nLes symptômes varient-ils selon le type d'erreur ?\nY a-t-il des signes cutanés associés ?\nLes symptômes apparaissent-ils à la naissance ?\nLes troubles mentaux sont-ils possibles ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Erreurs innées du métabolisme lipidique", "description": "Peut-on prévenir ces erreurs ?\nLe conseil génétique est-il utile ?\nLes vaccinations sont-elles importantes ?\nLes tests prénataux sont-ils recommandés ?\nL'éducation des parents est-elle cruciale ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Erreurs innées du métabolisme lipidique", "description": "Quels traitements sont disponibles ?\nLa diététique joue-t-elle un rôle ?\nDes médicaments sont-ils utilisés ?\nLa thérapie génique est-elle une option ?\nLes greffes d'organes sont-elles nécessaires ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Erreurs innées du métabolisme lipidique", "description": "Quelles complications peuvent survenir ?\nLes erreurs lipidique peuvent-elles être mortelles ?\nY a-t-il des risques de cancer ?\nLes troubles psychologiques sont-ils fréquents ?\nLes complications sont-elles réversibles ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Erreurs innées du métabolisme lipidique", "description": "Quels sont les facteurs de risque génétiques ?\nL'origine ethnique influence-t-elle le risque ?\nL'alimentation joue-t-elle un rôle ?\nLes infections peuvent-elles aggraver la condition ?\nLe sexe influence-t-il le risque ?", "url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Transcriptome&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on une erreur métabolique lipidique ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests sanguins, des analyses génétiques et des biopsies." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour le diagnostic ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de dépistage néonatal, des dosages enzymatiques et des analyses d'urine sont courants." } }, { "@type": "Question", "name": "Les symptômes aident-ils au diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes cliniques orientent le diagnostic et peuvent indiquer le type d'erreur." } }, { "@type": "Question", "name": "Quelle est l'importance de l'histoire familiale ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'histoire familiale aide à identifier les risques génétiques et à orienter les tests." } }, { "@type": "Question", "name": "Peut-on utiliser l'imagerie pour le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'imagerie peut aider à évaluer les organes affectés, mais n'est pas spécifique." } }, { "@type": "Question", "name": "Quels sont les symptômes courants ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, douleurs abdominales, troubles neurologiques et retard de croissance." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon le type d'erreur ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, chaque type d'erreur lipidique présente des symptômes spécifiques et variés." } }, { "@type": "Question", "name": "Y a-t-il des signes cutanés associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent provoquer des dépôts lipidiques visibles sur la peau." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils à la naissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent apparaître dès la naissance, d'autres se développent plus tard." } }, { "@type": "Question", "name": "Les troubles mentaux sont-ils possibles ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs et comportementaux peuvent survenir dans certaines erreurs." } }, { "@type": "Question", "name": "Peut-on prévenir ces erreurs ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est limitée, mais le dépistage néonatal peut aider à identifier les cas précoces." } }, { "@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 de dépistage." } }, { "@type": "Question", "name": "Les vaccinations sont-elles importantes ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les vaccinations ne préviennent pas les erreurs métaboliques, mais protègent contre d'autres maladies." } }, { "@type": "Question", "name": "Les tests prénataux sont-ils recommandés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des tests prénataux peuvent être proposés pour détecter certaines erreurs génétiques." } }, { "@type": "Question", "name": "L'éducation des parents est-elle cruciale ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, informer les parents sur les signes et symptômes peut aider à une détection précoce." } }, { "@type": "Question", "name": "Quels traitements sont disponibles ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des régimes alimentaires spécifiques, des suppléments et des médicaments." } }, { "@type": "Question", "name": "La diététique joue-t-elle un rôle ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un régime adapté est crucial pour gérer les niveaux de lipides et prévenir les complications." } }, { "@type": "Question", "name": "Des médicaments sont-ils utilisés ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour réduire les niveaux de lipides ou traiter les symptômes." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche pour certaines erreurs, mais n'est pas encore courante." } }, { "@type": "Question", "name": "Les greffes d'organes sont-elles nécessaires ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Dans certains cas graves, des greffes peuvent être envisagées pour traiter des dommages organiques." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des maladies hépatiques, des troubles neurologiques et des problèmes cardiaques." } }, { "@type": "Question", "name": "Les erreurs lipidique peuvent-elles être mortelles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent entraîner des complications graves pouvant être fatales sans traitement." } }, { "@type": "Question", "name": "Y a-t-il des risques de cancer ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent augmenter le risque de développer certains types de cancer." } }, { "@type": "Question", "name": "Les troubles psychologiques sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles psychologiques peuvent survenir en raison de l'impact des symptômes." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes sans traitement." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque génétiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux d'erreurs métaboliques augmentent le risque de transmission." } }, { "@type": "Question", "name": "L'origine ethnique influence-t-elle le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines erreurs sont plus fréquentes dans des populations spécifiques en raison de la génétique." } }, { "@type": "Question", "name": "L'alimentation joue-t-elle un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation déséquilibrée peut exacerber les symptômes chez les individus prédisposés." } }, { "@type": "Question", "name": "Les infections peuvent-elles aggraver la condition ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent déclencher ou aggraver les symptômes des erreurs métaboliques." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs métaboliques peuvent avoir une prévalence différente selon le sexe." } } ] } ] }

Sous-catégories

18 au total
└─

Syndrome de Barth

Barth Syndrome D056889 - C18.452.648.398.224
└─

Hyperlipidémie familiale mixte

Hyperlipidemia, Familial Combined D006950 - C18.452.648.398.450
└─

Hyperlipoprotéinémie de type I

Hyperlipoproteinemia Type I D008072 - C18.452.648.398.465
└─

Hyperlipoprotéinémie de type II

Hyperlipoproteinemia Type II D006938 - C18.452.648.398.481
└─

Hyperlipoprotéinémie de type III

Hyperlipoproteinemia Type III D006952 - C18.452.648.398.483
└─

Hyperlipoprotéinémie de type IV

Hyperlipoproteinemia Type IV D006953 - C18.452.648.398.487
└─

Hyperlipoprotéinémie de type V

Hyperlipoproteinemia Type V D006954 - C18.452.648.398.493
└─

Hypolipoprotéinémies

Hypolipoproteinemias D007009 - C18.452.648.398.500
└─

Lipidoses

Lipidoses D008064 - C18.452.648.398.641
└─

Xanthomatose cérébrotendineuse

Xanthomatosis, Cerebrotendinous D019294 - C18.452.648.398.925
└─└─

Hypercholestérolémie familiale homozygote

Homozygous Familial Hypercholesterolemia D000090542 - C18.452.648.398.481.500
└─└─

Hypoalphalipoprotéinémies

Hypoalphalipoproteinemias D052456 - C18.452.648.398.500.330
└─└─

Hypobêtalipoprotéinémies

Hypobetalipoproteinemias D006995 - C18.452.648.398.500.440
└─└─

Céroïdes-lipofuscinoses neuronales

Neuronal Ceroid-Lipofuscinoses D009472 - C18.452.648.398.641.509
└─└─

Syndrome de Sjögren-Larsson

Sjogren-Larsson Syndrome D016111 - C18.452.648.398.641.723
└─└─└─

Déficit en lécithine-cholestérol-acyl-transférase

Lecithin Cholesterol Acyltransferase Deficiency D007863 - C18.452.648.398.500.330.500
└─└─└─

Maladie de Tangier

Tangier Disease D013631 - C18.452.648.398.500.330.750
└─└─└─

Abêtalipoprotéinémie

Abetalipoproteinemia D000012 - C18.452.648.398.500.440.500

Sources (10000 au total)