questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme lipidique
Erreurs innées du métabolisme lipidique : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Erreurs innées du métabolisme
Lipidémie
Tests génétiques
Dépistage néonatal
Analyse d'urine
Tests enzymatiques
Symptômes
Diagnostic médical
Erreurs innées du métabolisme
Antécédents familiaux
Génétique
Erreurs innées du métabolisme
Imagerie médicale
Évaluation des organes
Diagnostic médical
Symptômes
5
Symptômes
Troubles neurologiques
Retard de croissance
Erreurs innées du métabolisme
Variabilité des symptômes
Lipidémie
Dépôts lipidiques
Symptômes cutanés
Erreurs innées du métabolisme
Symptômes néonatals
Développement
Erreurs innées du métabolisme
Troubles mentaux
Cognition
Erreurs innées du métabolisme
Prévention
5
Prévention
Dépistage néonatal
Erreurs innées du métabolisme
Conseil génétique
Risques héréditaires
Erreurs innées du métabolisme
Vaccination
Prévention des maladies
Erreurs innées du métabolisme
Tests prénataux
Dépistage génétique
Erreurs innées du métabolisme
Éducation des parents
Détection précoce
Erreurs innées du métabolisme
Traitements
5
Traitement médical
Régime alimentaire
Suppléments nutritionnels
Diététique
Gestion des lipides
Prévention des complications
Médicaments
Traitement symptomatique
Lipidémie
Thérapie génique
Recherche médicale
Erreurs innées du métabolisme
Greffe d'organe
Traitement des complications
Erreurs innées du métabolisme
Complications
5
Complications
Maladies hépatiques
Troubles neurologiques
Complications graves
Mortalité
Erreurs innées du métabolisme
Risque de cancer
Complications
Erreurs innées du métabolisme
Troubles psychologiques
Complications
Erreurs innées du métabolisme
Complications réversibles
Gestion des symptômes
Erreurs innées du métabolisme
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Erreurs innées du métabolisme
Origine ethnique
Prédisposition génétique
Erreurs innées du métabolisme
Alimentation
Facteurs de risque
Erreurs innées du métabolisme
Infections
Aggravation des symptômes
Erreurs innées du métabolisme
Facteurs de risque
Prévalence
Erreurs innées du métabolisme
{
"@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": "The incidence of",
"datePublished": "2022-06-29",
"url": "https://questionsmedicales.fr/article/35765168",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1017/S0950268822001170"
}
},
{
"@type": "ScholarlyArticle",
"name": "Incidence and predictors of",
"datePublished": "2022-10-26",
"url": "https://questionsmedicales.fr/article/36285816",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1017/S0950268822001637"
}
},
{
"@type": "ScholarlyArticle",
"name": "Increasing incidence of",
"datePublished": "2023-06-28",
"url": "https://questionsmedicales.fr/article/37448654",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3389/fpubh.2023.1203095"
}
},
{
"@type": "ScholarlyArticle",
"name": "Trends in the incidence of",
"datePublished": "2022-09-09",
"url": "https://questionsmedicales.fr/article/36082779",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1017/ice.2022.208"
}
},
{
"@type": "ScholarlyArticle",
"name": "Very High Incidence of",
"datePublished": "2023-01-31",
"url": "https://questionsmedicales.fr/article/36767946",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijerph20032582"
}
}
],
"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": "2025-05-13",
"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=Incidence#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=Incidence#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=Incidence#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=Incidence#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=Incidence#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=Incidence#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."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 07/05/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
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.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
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.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Children's National, Washington, DC 20010, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-millat university, H-8/4, Islamabad, Pakistan. dr.sumreena@gmail.com.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Division of Allergy and Clinical Immunology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, 60 Fenwood Road, BTM/Hale Building, 5th Floor, Boston, MA 02115, USA. Electronic address: cbaloh@bwh.harvard.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, AOB 3300, Pittsburgh, PA 15224, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA. Electronic address: scanlant@ohsu.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA; Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, Georgia, USA. Electronic address: kferrie@emory.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Gynecology and Obstetrics, Division of Maternal-Fetal Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA; Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 11525, Saudi Arabia. malmannai@kfmc.med.sa.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
King Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
Publications dans "Erreurs innées du métabolisme lipidique" :
Scrub typhus is a common bacterial infection in Asia caused by...
This study aimed at exploring the epidemiological pattern of imported malaria in China before malaria elimination in 2021, to provide evidence-based data for preventing malaria re-establishment in Chi...
Nine-year surveillance data on imported malaria in four provincial-level administrative divisions (PLADs) (Anhui, Chongqing, Guangxi, and Zhejiang) between 2011 and 2019 were thoroughly collected and ...
A quite stable trend in imported malaria cases between 2011 and 2019 was observed. In total, 6,064 imported patients were included....
Imported malaria still poses a threat to the malaria-free status of China. County-level institutions are the primary targets in China to improve the sensitivity of the surveillance system and prevent ...
Few data are available to quantify the...
Retrospective cohort study to identify adults with codes for CDI from 2011 to 2017 in MarketScan commercial and Medicaid databases (for those aged 25-64 years) and the CMS Medicare database (for those...
The overall CDI incidence in the elderly was 3.1-fold higher in persons insured by Medicare plus Medicaid than in those insured by Medicare only (1,935 vs 618 per 100,000 person years (PY)), and the C...
Although HCA-CDI incidence decreased from 2011 to 2017 in elderly and younger adults insured by Medicaid, the burden of CDI remains much higher in low-income adults insured by Medicaid....
The rise in sexually transmitted infections and chemsex has led to syndemy with HIV, partly due to common routes of transmission and clustered transmissions. Despite this, barriers to STI care and PrE...
The study group was tested for HIV, HCV, and...
Despite a lower risk for HIV acquisition, the study group was at a very high risk for other STIs, and this risk remained high throughout the study. Patients and medical professionals should be aware o...
In this population-based study, we included 186,769 patients with a newly diagnosed...
The incidence in non-cardia GC and gastric NHL significantly decreased during 2000-2019, while the rate plateaued for cardia GC (AAPCs, -1.0% [95% CI, -1.1%-0.9%], -2.6% [95% CI, -2.9%-2.3%], and -0.2...
The incidence of...
To describe the incidence, risk factors, and outcomes of incident atrial fibrillation (AF) in Graves disease (GD)....
Patients with GD between January 1, 2009, and December 31, 2019, were included retrospectively. We defined GD-related AF as AF diagnosed less than or equal to 30 days before or any time after GD. Late...
Of 1371 patients with GD, AF occurred in 139 patients. Late-onset AF occurred in 32 (23.0%) of AF cases, of which 16 (50.0%) had attained euthyroidism. Independent risk factors were age (HR, 1.05; 95%...
Late-onset AF comprised one-quarter of GD-related AF cases requiring surveillance even after restoring euthyroidism. Risk factors for AF in GD are similar to those in the general population although o...
Data on frailty frequency are heterogeneous and mostly based on cross-sectional studies. Little is known about frailty development and progression over time. Our aim was to conduct a systematic analys...
As secondary analysis of the Italian Longitudinal Study on Aging (ILSA) population-based cohort (n = 5,632, 65-84), frailty status was operationalized according to Fried criteria (n = 2,457). Weighted...
Prevalence of frailty and pre-frailty at baseline (mean age 71.6 years; women 58.9%) were 4.0% (95% confidence interval [CI]: 3.4-4.6) and 44.6% (95% CI: 43.1-46.1), respectively. Incidence rates per ...
According to our findings, frailty is common among older people and is a strong and independent predictor of disability. Further research on factors and characteristics related to frailty progression,...
A framework for analysing incidence in pharmacoepidemiology and drug statistics is suggested using statins as an example. A new case of statin use (first-ever use or recurrence of treatment) can be de...
Individual-level dispensations of statins 2006-2019 for 1 017 058 individuals with at least one dispensation 2019 in Sweden....
With 12-month run-in, corresponding to at least 8 months without treatment, the incidence proportion of NoG was 13.39 new cases per 1000 inhabitants and 8.40 with 10-year run-in. Thus, 37% had first b...
It is essential to separate new cases that are new both on the substance and on the group from those that represent a change of therapy during the run-in....
Prior studies suggested that metformin may be associated with reduced dementia incidence, but associations may be confounded by disease severity and prescribing trends. Cessation of metformin therapy ...
To investigate the association of terminating metformin treatment for reasons unrelated to kidney dysfunction with dementia incidence....
This cohort study was conducted at Kaiser Permanente Northern California, a large integrated health care delivery system, among a cohort of metformin users born prior to 1955 without history of diagno...
A total of 12 220 early terminators, individuals who stopped metformin with normal estimated glomerular filtration rate (eGFR), were compared with routine metformin users, who had not yet terminated m...
The outcome of interest was all-cause incident dementia. Follow-up for early terminators and their matched routine users was started at age of termination for the early terminator. Survival models adj...
The final analytic sample consisted of 12 220 early terminators (5640 women [46.2%]; mean [SD] age at start of first metformin prescription, 59.4 [9.0] years) and 29 126 routine users (13 582 women [4...
In this study, terminating metformin treatment was associated with increased dementia incidence. This finding may have important implications for clinical treatment of adults with diabetes and provide...