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
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
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"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#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#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#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 06/02/2025
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" :
There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS progr...
In its 22-year history, this programme has analysed samples from 440,723 neonates and identified 326 cases of IEM with a prevalence of 1:1351. The most prevalent IEMs were hyperphenylalaninaemia (n = ...
This study highlights the benefits of collecting urine samples, reduce NBS reporting time and expanding the number of IEMs included in NBS programmes....
We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), who presented with an early-onset focal motor status epi...
As the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years. Given th...
To present new therapeutic modalities for inborn errors of metabolism that are in clinical trials or recently approved by the US Food and Drug Administration (FDA) and to improve pediatricians' unders...
New therapies that move beyond the old standard modalities of recombinant human enzyme therapies, diet and medications have been recently approved by the US FDA to include nonhuman enzyme therapies, g...
These new therapies offer more therapeutic options for individuals with inborn errors of metabolism. These new therapies have the potential to improve patient compliance and outcomes. Many other novel...
Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechani...
Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are linke...
Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population grou...
Since its discovery as a genome editing tool, the clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened new horizons in the diagnosi...
Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders, affecting a wide variety of metabolic pathways and/or biochemical processes inside the cells. Although IEMs are u...
RNA-based therapies are a new, rapidly growing class of drugs that until a few years ago were being used mainly in research in rare diseases. However, the clinical efficacy of recently approved oligon...