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": "Down-regulation of the",
"datePublished": "2023-10-23",
"url": "https://questionsmedicales.fr/article/37871609",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1080/09513590.2023.2269273"
}
},
{
"@type": "ScholarlyArticle",
"name": "Down-Regulation of CYP3A4 by the K",
"datePublished": "2023-10-27",
"url": "https://questionsmedicales.fr/article/37958656",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijms242115672"
}
},
{
"@type": "ScholarlyArticle",
"name": "Diazepam-Induced Down-Regulation of the GABA",
"datePublished": "2023-06-23",
"url": "https://questionsmedicales.fr/article/37356564",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.neulet.2023.137358"
}
},
{
"@type": "ScholarlyArticle",
"name": "Stretch-Induced Down-Regulation of HCN2 Suppresses Contractile Activity.",
"datePublished": "2023-05-26",
"url": "https://questionsmedicales.fr/article/37298834",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/molecules28114359"
}
},
{
"@type": "ScholarlyArticle",
"name": "Down-regulation of stimulator of interferon genes (STING) expression and CD8",
"datePublished": "2023-08-05",
"url": "https://questionsmedicales.fr/article/37542528",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1007/s10120-023-01417-x"
}
}
],
"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=Down-Regulation#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=Down-Regulation#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=Down-Regulation#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=Down-Regulation#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=Down-Regulation#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=Down-Regulation#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" :
To evaluate FTO concentrations in follicular fluid (FF) of women with ovarian endometriosis (OE) and controls women without OE undergoing...
FTO concentrations in FF were measured in 74 patients (37 in the control group and 37 in the OE group) by ELISA. We measured the expression of FTO in GCs of 40 patients (19 in the control group and 21...
Compared with the control group, FTO concentrations in FF (6.92 ± 0.44...
The FTO concentrations in FF of infertility women with OE are decreased, which may be related to the impaired oocyte quality in endometriosis patients....
The large-conductance Ca...
Benzodiazepines are among the most prescribed drug class worldwide to treat disorders such as anxiety, insomnia, muscle spasticity, and convulsive disorders, and to induce presurgical sedation. Althou...
Although hyperpolarization-activated and cyclic nucleotide-gated 2 channels (HCN2) are expressed in multiple cell types in the gut, the role of HCN2 in intestinal motility is poorly understood. HCN2 i...
HER2 signaling might be involved in the regulation of immune cell activation in the tumor microenvironment (TME) of gastric cancer (GC). However, the relationship between HER2 status and immune cell c...
To investigate the effect of HER2 signaling on the activation of the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway, which contributes to immune cell activation in the G...
The expression of HER2 is highly heterogeneous in HER2-positive GC tissues, and we found that the number of CD8...
Our results suggest that HER2 signaling might suppress immune cell activation in the GC TME by inhibiting STING signaling in tumor cells in HER2-positive GC....
Biofilm formation is the major pathogenicity of...
The inhibiting mechanisms of isookanin against biofilm formation through surface hydrophobicity assay, exopolysaccharides, eDNA, gene expression analysis, microscopic visualization, and molecular dock...
The results showed that isookanin could decrease the biofilm formation of...
This study improved the antibiotic susceptibility of...
Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502). Current studies supported the strong rela...
Anoikis, a form of apoptosis resulting from the loss of cell-extracellular matrix interaction, is a significant barrier to cancer cell metastasis. However, the epigenetic regulation of this process re...
Pancreatic ductal adenocarcinoma (PDAC) is associated with a very poor prognosis. Therefore, there has been a focus on identifying new biomarkers for its early diagnosis and the prediction of patient ...
Overexpression of lysophosphatidylcholine acyltransferase 1 (LPCAT1) has been found in various solid cancers and is associated with disease progression, metastasis, and recurrence. However, the expres...
LPCAT1 expression in bone marrow was significantly lower in AML than in healthy controls predicted by public databases. Furthermore, real-time quantitative PCR (RQ-PCR) validated that LPCAT1 expressio...
LPCAT1 is down-regulated in AML bone marrow, and LPCAT1 down-regulation could be used as a potential biomarker for AML diagnosis and prognosis....