{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Carnitine O-palmitoyltransferase : Questions médicales les plus fréquentes",
"headline": "Carnitine O-palmitoyltransferase : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Carnitine O-palmitoyltransferase : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-07-06",
"dateModified": "2025-04-02",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Carnitine O-palmitoyltransferase"
},
"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": "Carnitine acyltransferases",
"url": "https://questionsmedicales.fr/mesh/D002333",
"about": {
"@type": "MedicalCondition",
"name": "Carnitine acyltransferases",
"code": {
"@type": "MedicalCode",
"code": "D002333",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.050.350"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Carnitine O-palmitoyltransferase",
"alternateName": "Carnitine O-Palmitoyltransferase",
"code": {
"@type": "MedicalCode",
"code": "D002334",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Stephan Zierz",
"url": "https://questionsmedicales.fr/author/Stephan%20Zierz",
"affiliation": {
"@type": "Organization",
"name": "Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube Str. 40, 06120 Halle (Saale), Germany."
}
},
{
"@type": "Person",
"name": "Yixin Chen",
"url": "https://questionsmedicales.fr/author/Yixin%20Chen",
"affiliation": {
"@type": "Organization",
"name": "Institute of Clinical Pharmacology and Guangdong Provincial Key Laboratory of New Drug Design and Evaluation, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, China."
}
},
{
"@type": "Person",
"name": "Huizhen Zhang",
"url": "https://questionsmedicales.fr/author/Huizhen%20Zhang",
"affiliation": {
"@type": "Organization",
"name": "Institute of Clinical Pharmacology and Guangdong Provincial Key Laboratory of New Drug Design and Evaluation, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, China."
}
},
{
"@type": "Person",
"name": "Min Huang",
"url": "https://questionsmedicales.fr/author/Min%20Huang",
"affiliation": {
"@type": "Organization",
"name": "Institute of Clinical Pharmacology and Guangdong Provincial Key Laboratory of New Drug Design and Evaluation, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, China."
}
},
{
"@type": "Person",
"name": "Huichang Bi",
"url": "https://questionsmedicales.fr/author/Huichang%20Bi",
"affiliation": {
"@type": "Organization",
"name": "Institute of Clinical Pharmacology and Guangdong Provincial Key Laboratory of New Drug Design and Evaluation, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, China."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Examining patterns of executive functioning across dimensions of psychopathology.",
"datePublished": "2022-09-09",
"url": "https://questionsmedicales.fr/article/36113913",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jbtep.2022.101778"
}
},
{
"@type": "ScholarlyArticle",
"name": "Cognitive stimulation of executive functions through computational thinking.",
"datePublished": "2023-07-06",
"url": "https://questionsmedicales.fr/article/37421925",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jecp.2023.105738"
}
},
{
"@type": "ScholarlyArticle",
"name": "Executive Functions and Motor Adaptation to Predictable and Unpredictable Perturbations.",
"datePublished": "2023-03-09",
"url": "https://questionsmedicales.fr/article/36894888",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1177/00315125221150100"
}
},
{
"@type": "ScholarlyArticle",
"name": "Impairments to executive function in emerging adults with Huntington disease.",
"datePublished": "2022-11-30",
"url": "https://questionsmedicales.fr/article/36450478",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1136/jnnp-2022-329812"
}
},
{
"@type": "ScholarlyArticle",
"name": "Executive function as a mechanism for the emergence and expression of moral knowledge.",
"datePublished": "2024-07-25",
"url": "https://questionsmedicales.fr/article/39260908",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/bs.acdb.2024.07.001"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Enzymes et coenzymes",
"item": "https://questionsmedicales.fr/mesh/D045762"
},
{
"@type": "ListItem",
"position": 3,
"name": "Enzymes",
"item": "https://questionsmedicales.fr/mesh/D004798"
},
{
"@type": "ListItem",
"position": 4,
"name": "Transferases",
"item": "https://questionsmedicales.fr/mesh/D014166"
},
{
"@type": "ListItem",
"position": 5,
"name": "Acyltransferases",
"item": "https://questionsmedicales.fr/mesh/D000217"
},
{
"@type": "ListItem",
"position": 6,
"name": "Carnitine acyltransferases",
"item": "https://questionsmedicales.fr/mesh/D002333"
},
{
"@type": "ListItem",
"position": 7,
"name": "Carnitine O-palmitoyltransferase",
"item": "https://questionsmedicales.fr/mesh/D002334"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Carnitine O-palmitoyltransferase - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Carnitine O-palmitoyltransferase",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-15",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Carnitine O-palmitoyltransferase",
"description": "Comment diagnostiquer une déficience en carnitine O-palmitoyltransférase ?\nQuels tests sont utilisés pour évaluer l'activité de l'enzyme ?\nQuels symptômes peuvent indiquer un problème avec cette enzyme ?\nLes tests de dépistage néonatal incluent-ils cette enzyme ?\nQuelle imagerie peut aider au diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Carnitine O-palmitoyltransferase",
"description": "Quels sont les symptômes courants d'une déficience en carnitine O-palmitoyltransférase ?\nLa déficience peut-elle causer des problèmes cardiaques ?\nLes symptômes varient-ils selon l'âge ?\nY a-t-il des signes d'alerte à surveiller ?\nLes symptômes peuvent-ils apparaître après un effort physique ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Carnitine O-palmitoyltransferase",
"description": "Peut-on prévenir la déficience en carnitine O-palmitoyltransférase ?\nLes femmes enceintes doivent-elles être testées ?\nY a-t-il des conseils diététiques pour les familles à risque ?\nLes vaccinations sont-elles importantes pour ces patients ?\nComment surveiller les symptômes chez les enfants ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Carnitine O-palmitoyltransferase",
"description": "Quel est le traitement principal pour cette déficience ?\nDes modifications alimentaires sont-elles nécessaires ?\nLes médicaments peuvent-ils aider ?\nLa thérapie physique est-elle bénéfique ?\nY a-t-il des traitements expérimentaux disponibles ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Carnitine O-palmitoyltransferase",
"description": "Quelles complications peuvent survenir avec cette déficience ?\nLa déficience peut-elle entraîner des crises ?\nY a-t-il un risque accru de maladies métaboliques ?\nLes complications sont-elles réversibles ?\nComment prévenir les complications graves ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Carnitine O-palmitoyltransferase",
"description": "Quels sont les facteurs de risque pour cette déficience ?\nLes nourrissons sont-ils plus à risque ?\nLes personnes obèses sont-elles plus susceptibles d'être affectées ?\nY a-t-il des facteurs environnementaux à considérer ?\nLes maladies chroniques augmentent-elles le risque ?",
"url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Executive+Function&page=3#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une déficience en carnitine O-palmitoyltransférase ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par des tests génétiques et des analyses sanguines pour mesurer les niveaux de carnitine."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité de l'enzyme ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests enzymatiques dans des échantillons de tissus ou de sang peuvent être réalisés."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes comme la fatigue, la faiblesse musculaire et des douleurs peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage néonatal incluent-ils cette enzyme ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains programmes de dépistage néonatal incluent des tests pour les troubles métaboliques."
}
},
{
"@type": "Question",
"name": "Quelle imagerie peut aider au diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'IRM peut être utilisée pour évaluer les dommages musculaires associés à la déficience."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants d'une déficience en carnitine O-palmitoyltransférase ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent fatigue, faiblesse musculaire, hypoglycémie et douleurs musculaires."
}
},
{
"@type": "Question",
"name": "La déficience peut-elle causer des problèmes cardiaques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications cardiaques peuvent survenir en raison d'une mauvaise utilisation des acides gras."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent être plus graves chez les nourrissons que chez les adultes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes d'alerte à surveiller ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme des crises, une faiblesse extrême ou des troubles respiratoires doivent alerter."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils apparaître après un effort physique ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice intense peut déclencher des symptômes chez les personnes atteintes."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir la déficience en carnitine O-palmitoyltransférase ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un dépistage précoce peut aider à gérer la condition."
}
},
{
"@type": "Question",
"name": "Les femmes enceintes doivent-elles être testées ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage peut être recommandé si des antécédents familiaux existent."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques pour les familles à risque ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une consultation avec un nutritionniste peut aider à établir un régime adapté."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles importantes pour ces patients ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont cruciales pour prévenir les infections qui peuvent aggraver la condition."
}
},
{
"@type": "Question",
"name": "Comment surveiller les symptômes chez les enfants ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les parents doivent surveiller la fatigue, les douleurs musculaires et consulter un médecin."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal consiste en des suppléments de carnitine pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Des modifications alimentaires sont-elles nécessaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un régime riche en glucides et faible en graisses peut être recommandé."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour gérer les symptômes et prévenir les complications."
}
},
{
"@type": "Question",
"name": "La thérapie physique est-elle bénéfique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la thérapie physique peut aider à améliorer la force musculaire et la fonction."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques peuvent explorer de nouvelles thérapies, mais ils sont limités."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec cette déficience ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des troubles musculaires, des problèmes cardiaques et des hypoglycémies."
}
},
{
"@type": "Question",
"name": "La déficience peut-elle entraîner des crises ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des crises peuvent survenir en raison d'une hypoglycémie sévère ou d'un stress métabolique."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies métaboliques ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent être à risque accru de développer d'autres maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications graves ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi médical régulier et une gestion appropriée des symptômes sont essentiels."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de troubles métaboliques augmentent le risque de déficience."
}
},
{
"@type": "Question",
"name": "Les nourrissons sont-ils plus à risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les nourrissons, surtout ceux avec des antécédents familiaux, sont plus à risque."
}
},
{
"@type": "Question",
"name": "Les personnes obèses sont-elles plus susceptibles d'être affectées ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'obésité peut augmenter le risque de troubles métaboliques, y compris cette déficience."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux à considérer ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs comme l'alimentation et l'exposition à des toxines peuvent influencer le risque."
}
},
{
"@type": "Question",
"name": "Les maladies chroniques augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies chroniques peuvent prédisposer à des troubles métaboliques."
}
}
]
}
]
}
The current study examined relationships between psychopathology and individual domains of executive functioning (EF) amongst adults. While previous studies have examined these relationships using dia...
This study analyzed the data of 722 individuals between the ages of 18-59 years, who took part in the Nathan Kline Institute (NKI)-Rockland project. Confirmatory factor analyses were used to derive a ...
Results demonstrated an adequate fit for both model structures and indicated that internalizing and externalizing psychopathology had positive and negative relationships with different factors of EF, ...
This study examines pathological traits within a non-clinical sample that excluded individuals with severe mental illness. Additionally, analyses were limited by the availability of certain variables,...
Patterns of associations with EF were unique to all three aspects of dimensional psychopathology. When examined together, different dimensions of psychopathology were related to both better and worse ...
The healthy development of cognitive functions, including executive functions, has been shown to depend mainly on the experiences and learning opportunities of people, especially during childhood. Ove...
In this study, we aimed to investigate the influence of executive functions (EF) on motor adaptation. We compared the motor performance of adults with and without EF deficits. Those with EF deficits (...
The clinical diagnosis of Huntington disease (HD) is typically made once motor symptoms and chorea are evident. Recent reports highlight the onset of cognitive and psychiatric symptoms before motor ma...
To assess cognitive symptoms in the developing brain, we administered assessments from the National Institutes of Health Toolbox Cognitive Battery, an age-appropriate cognitive assessment with populat...
We find significant deficits in the composite measure of executive function in GE compared with GNE participants. GE participant performance on working memory was significantly lower compared with GNE...
This work provides strong evidence that impairments in executive function occur as early as the second decade of life, well before anticipated motor onset. Future investigations should delineate wheth...
We outline two accounts by which executive function (EF) supports children's moral reasoning: an emergence and an expression account. The emergence account postulates that EF supports the development ...
A renewed interest in early executive function (i.e., EF or the conscious control of thought and behavior) development has led several research groups to suggest that EF may be emerging and is less co...
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p...
The ineligible role of the caudate nucleus in sleep has been implicated. Previous literature showed that the caudate volume is associated with longer habitual sleep duration in older adults. However, ...
The functional roles of the precuneus are unclear. Focal precuneus lesions are rare, making it difficult to identify robust brain-behavior relationships. Distinct functional subdivisions of the precun...