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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
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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?mesh_terms=Anatomic+Landmarks#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=Anatomic+Landmarks#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=Anatomic+Landmarks#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 assess the value of combined transvaginal/transabdominal ultrasonographic evaluation performed by experienced examiners for deep infiltrating endometriosis (DIE) lesions of the retrocervical (torus...
Retrospective study....
A specialized endometriosis center in Avellino, Italy....
A retrospective cohort of patients who underwent laparoscopic surgery for clinically suspected DIE between January 1, 2014, and December 31, 2018, with a dedicated ultrasound (US) evaluation performed...
Preoperative US findings and surgical reports were reviewed. Using the findings of laparoscopic surgery as the gold standard, the sensitivity and specificity of preoperative US evaluation for retrocer...
A total of 4983 patients were included. US evaluation showed high diagnostic accuracy for DIE detection in the examined pelvic compartments, with sensitivity and specificity of 97% to 98% and 98% to 1...
Parametrial extension of DIE indicates major surgical technical difficulties and risk of complications, and urologic and nerve-sparing procedures may be required in such cases. Preoperative evaluation...
Panoramic radiographs, in which anatomic landmarks can be observed, are used to detect cases closely related to pediatric dentistry. The purpose of the study is to investigate the success and reliabil...
A total of 981 mixed images of pediatric patients for 9 different pediatric anatomic landmarks including maxillary sinus, orbita, mandibular canal, mental foramen, foramen mandible, incisura mandible,...
A total of 14,804 labels including maxillary sinus (1922), orbita (1944), mandibular canal (1879), mental foramen (884), foramen mandible (1885), incisura mandible (1922), articular eminence (1645), c...
The regular and standardized labelling, the relatively larger areas, and the success of the YOLO-v5 algorithm contributed to obtaining these successful results. Automatic segmentation of these structu...
This study aimed to explore the use of Gerdy's tubercle (GT) as an innovative and dependable anatomical landmark for the proximal tibial cut in total knee arthroplasty (TKA) in cases with extensive kn...
One hundred dry tibia bones and 10 formalin-fixed cadaveric knee specimens of both sexes were examined. A Zimmer NexGen tibial cutting guide and a Mitutoyo digital caliper were utilized to align the g...
Anatomical measurements of GT and proximal tibial areas in 110 specimens showed slight but consistent variations with cadaver measurements. Magnetic resonance imaging analysis of 48 patients revealed ...
Proper alignment in TKA is crucial for success, but identifying an extra-articular landmark for horizontal tibial resection remains challenging, particularly in severely arthritic knees. This study in...
Radiographic measurements to study sagittal alignment in the setting of knee are frequently difficult to evaluate due the presence of a prosthesis or implant that obscures traditional radiographic lan...
98 full-length femoral radiographs were reviewed and divided into two groups. In Group 1, the Distal Mechanical Point (DMP) was used to calculate the Distal Mechanical Ratio (DMR), defined as the rati...
The mean DMR was found to be 0.24, with high intraobserver correlation and normal distribution. Validation of the model demonstrated angular variance between tSMA and cSMA less than 1 degree and linea...
The Distal Mechanical Ratio reliably predicted the true Sagittal Mechanical Axis within 1 degree and true Distal Mechanical Point within 1 mm, indicating that it may be a valuable tool for evaluating ...
Accurate arm circumference (AC) measurement is required for accurate blood pressure (BP) readings. Standards stipulate measuring arm circumference at the midpoint between the acromion process (AP) and...
The aim of the study was to develop and evaluate an automated preoperative planning algorithm based on anatomical landmark point recognition for enhancing the efficiency and intelligence of preoperati...
A retrospective cohort of 34 patients underwent preoperative planning with this algorithm. The present algorithm was developed using a method based on anatomical marker point recognition. The efficien...
The results showed that the automated planning algorithm was able to achieve a great improvement in preoperative planning efficiency as well as safety and symmetry. A prospective case report of 2 pati...
This algorithm can help to improve the efficiency of preoperative planning for surgeons while ensuring safety and esthetics and can be further applied to other craniomaxillofacial personalized design ...
Thoracic epidural placement (TEP) using the conventional anatomic landmark-based technique is technically challenging, may require multiple attempts, and is associated with a high failure rate (12-40%...
This prospective, randomized, superiority trial was conducted in a University hospital, and recruited 96 patients undergoing elective major abdominal or thoracic surgery and scheduled to receive a TEP...
The first-pass success rate of TEP was significantly higher (p = 0.002) in Gp-Usg (33/48 (68.8%); 95%CI 55.6 to 81.9) than in Gp-Conv (17/48 (35.4%); 95%CI 21.9 to 49.0). There was no statistically si...
This study indicates that real-time ultrasound guidance is superior to a conventional anatomic landmark-based technique for first-pass success during TEP although it is achieved at the expense of a ma...
Thai Clinical Trials Registry; http://www.thaiclinicaltrials.org/ ; Trial ID: TCTR20200522002 , Registration date: 22/05/2020....
Primary female urethral carcinoma (PUC-F) accounts for less than 1% of all genitourinary malignancies and comprises a histologically diverse group of tumors that are usually associated with poor progn...
The determination of anatomic landmarks on the pelvis is an important procedure in orthopaedics, computational biomechanics and morphometrics. This study aimed to develop a robust method for determini...
Automatic anatomical landmark localization has made great strides by leveraging deep learning methods in recent years. The ability to quantify the uncertainty of these predictions is a vital component...