questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Isomerases
Intramolecular oxidoreductases
Aldose-ketose isomerases
Aldose-ketose isomerases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Genetic Predisposition to Disease
Diagnostic
5
Déficience enzymatique
Tests génétiques
Tests biochimiques
Échantillons biologiques
Symptômes métaboliques
Anomalies enzymatiques
Marqueurs biologiques
Sucres sanguins
Mutations génétiques
Génétique médicale
Symptômes
5
Hypoglycémie
Retard de croissance
Âge d'apparition
Troubles métaboliques
Troubles neurologiques
Déséquilibres métaboliques
Qualité de vie
Problèmes de santé
Gestion des symptômes
Traitement
Prévention
5
Dépistage néonatal
Prévention des maladies
Conseils diététiques
Complications
Antécédents familiaux
Troubles métaboliques
Dépistage génétique
Anomalies enzymatiques
Éducation à la santé
Détection précoce
Traitements
5
Régime alimentaire
Suppléments enzymatiques
Thérapie génique
Recherche médicale
Régime adapté
Sucres problématiques
Essais cliniques
Traitements expérimentaux
Complications
5
Complications métaboliques
Développement
Gestion des complications
Complications permanentes
Santé globale
Qualité de vie
Risques à long terme
Traitement
Gestion proactive
Complications graves
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Tests génétiques
Risque accru
Mode de vie sain
Complications
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"name": "Comment diagnostiquer une déficience en aldose-kétose isomérases ?",
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"text": "Des tests enzymatiques et des analyses génétiques peuvent confirmer la déficience."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des isomérases ?",
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"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
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"position": 9,
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"name": "Les symptômes sont-ils réversibles ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en isomérases ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prévention est difficile, mais un dépistage néonatal peut aider à identifier les cas précoces."
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{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques préventifs ?",
"position": 12,
"acceptedAnswer": {
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"text": "Éviter certains sucres peut réduire le risque de complications chez les porteurs de mutations."
}
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{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils la prévention ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, des antécédents familiaux de troubles métaboliques augmentent le risque."
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{
"@type": "Question",
"name": "Le dépistage génétique est-il recommandé ?",
"position": 14,
"acceptedAnswer": {
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},
{
"@type": "Question",
"name": "Comment l'éducation peut-elle aider à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'éducation sur les symptômes et les risques peut aider à une détection précoce."
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{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette condition ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
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}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour traiter les symptômes associés, comme l'hypoglycémie."
}
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{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
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"text": "La thérapie génique est en recherche, mais pas encore une option standard pour ces déficiences."
}
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{
"@type": "Question",
"name": "Comment un régime alimentaire aide-t-il ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime adapté peut réduire les symptômes en limitant les sucres problématiques."
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{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques explorent de nouvelles approches, mais leur efficacité n'est pas encore prouvée."
}
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"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles métaboliques graves et des problèmes de développement."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"@type": "Question",
"name": "Comment les complications affectent-elles la santé globale ?",
"position": 23,
"acceptedAnswer": {
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
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"text": "Oui, des complications à long terme peuvent survenir sans traitement approprié."
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},
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"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
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"text": "Une gestion proactive des symptômes peut réduire le risque de complications graves."
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{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
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"text": "Les facteurs incluent des antécédents familiaux et certaines mutations génétiques."
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{
"@type": "Question",
"name": "L'âge joue-t-il un rôle dans les facteurs de risque ?",
"position": 27,
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"text": "Oui, certains facteurs de risque sont plus fréquents chez les nourrissons et les jeunes enfants."
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
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"text": "Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
}
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{
"@type": "Question",
"name": "Y a-t-il des tests pour évaluer les facteurs de risque ?",
"position": 29,
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"text": "Des tests génétiques peuvent identifier des mutations associées à un risque accru."
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"@type": "Question",
"name": "Comment le mode de vie affecte-t-il le risque ?",
"position": 30,
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 09/02/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Department of Ophthalmology, Louis J. Fox Center for Vision Restoration, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA; Department of Neurobiology, Center of Neuroscience, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, 15261, USA; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, 80708, Taiwan. Electronic address: kcchang@pitt.edu.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, Faculty of Science, Atatürk University, 25240, Erzurum, Turkey; Department of Pharmacy Services, Nihat Delibalta Göle Vocational High School, Ardahan University, 75700, Ardahan, Turkey. Electronic address: yelizdemir@ardahan.edu.tr.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
1 Asai Germanium Research Institute Co., Ltd.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
1 Asai Germanium Research Institute Co., Ltd.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
2 Enzymology and Molecular Biology Laboratory, Department of Chemistry and Life Science, Nihon University.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
a Dipartimento di Farmacia , Università di Pisa , Pisa , Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
a Dipartimento di Farmacia , Università di Pisa , Pisa , Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, via S. Zeno, 51, 56123 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacy, University of Pisa, via Bonanno 6, 56126 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Faculty of Pharmacy, Anadolu University, 26470, Eskişehir, Turkey.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology, University of Colorado, Anschutz Medical Campus, Aurora, CO, United States.
Publications dans "Aldose-ketose isomerases" :
Alzheimer's disease (AD) is a prevalent type of dementia in elderly populations with a significant genetic component. The accumulating evidence suggests that AD involves a reconfiguration of the epige...
Autoimmune diseases and coronavirus disease 2019 (COVID-19) share many similarities. Concerns have arisen that autoimmune diseases may increase the susceptibility and severity of COVID-19. We used Men...
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of impaired immune regulation resulting in hyperinflammation that is ultimately fatal if not treated. HLH is categorized into familial disease, c...
Childhood cancer is rare, but it remains the leading cause of disease-related mortality among children 1-14 years of age. As exposure to environmental factors is lower in children, inherited genetic f...
Current literature suggests that 10-18% of paediatric cancer patients have an underlying genetic susceptibility to their disease. With better knowledge and technology, more genes and syndromes are bei...
This review summarizes the current knowledge about different cancer predisposition syndromes, focusing on the diagnosis, genetic counselling, surveillance and future directions....
The causalities between the coronavirus disease 2019 (COVID-19) and the risk of rheumatic diseases remain unclear. The purpose of this study was to investigate the causal effect of COVID-19 on rheumat...
Single nucleotide polymorphisms (SNPs), acquired from published genome-wide association studies, were used to perform 2-sample Mendelian randomization (MR) on cases diagnosed with COVID-19 (n = 13 464...
The results revealed a causality between COVID-19 and rheumatic diseases with an odds ratio (OR) of 1.010 (95% confidence interval [CI], 1.006-1.013; P = .014). In addition, we observed that COVID-19 ...
This is the first study to use MR to explore the impact of COVID-19 on rheumatic diseases. From a genetic perspective, we found that COVID-19 could increase the risk of rheumatic diseases, such as PBC...
Diets rich in plant-based foods are associated with lower risks of non-alcoholic fatty liver disease (NAFLD), while the prospective evidence is limited. We aimed to examine longitudinal associations o...
This longitudinal cohort study included 159,222 participants (58.0 ± 8.0 years old, 55.7% female) free of NAFLD in the UK Biobank. We calculated the overall plant-based diet index (PDI), the healthful...
During a median follow-up of 9.5 years, 1541 new-onset NAFLD cases were documented. Compared to the lowest quintile, multivariable-adjusted hazard ratios (HRs) of NAFLD in the highest quintile were 0....
Higher intake of plant-based diets especially healthful plant-based diets was associated with lower NAFLD risk and liver fat content regardless of genetic susceptibility, whereas an unhealthful plant-...
Accumulating evidence has indicated that persistent human cytomegalovirus (HCMV) infection is associated with several cardiovascular diseases including atherosclerosis and coronary artery disease. How...
Single-nucleotide polymorphisms associated with anti-cytomegalovirus immunoglobulin (Ig) G levels were used as instrumental variables to estimate the causal effect of anti-cytomegalovirus IgG levels o...
In the IVW analysis, genetically predicted anti-cytomegalovirus IgG levels were suggestively associated with coronary artery disease with an odds ratio (OR) of 1.076 [95% CI, 1.009-1.147; p = 0.025], ...
Our findings first provide direct evidence that genetic predisposition of anti-cytomegalovirus IgG levels increases the risk of coronary artery disease, peripheral artery disease, and deep vein thromb...
The implementation of next-generation sequencing technologies has provided a sharp picture of the genetic variability in the components and regulators of the alternative pathway (AP) of the complement...
Current evidence on the relations of residential greenness with glucose homeostasis and type 2 diabetes (T2D) remained largely uncertain. Most importantly, no prior studies have investigated whether g...
We leveraged data from the UK Biobank prospective cohort study, with participants enrolled between 2006 and 2010. Residential greenness was assessed by using the Normalized Difference Vegetation Index...
Among 315,146 individuals (mean [SD] age, 56.59 [8.09] years), each one-unit increase in residential greenness was associated with reduction in HbA...
We add novel evidence that residential greenness has protective effects on glucose metabolism and T2D, and those beneficial effects can be amplified by low genetic risk. Our findings may facilitate th...
Thyroid hormones have actions on cartilage, whereas the association between thyroid hormone related diseases and osteoarthritis (OA) are unclear. This study aims to investigate the association between...
Summary-level genetic data of thyrotoxicosis were obtained from FinnGen cohorts (nCase = 10,569, nControl = 762,037). Summary-level data of OA were obtained from a large-scale genome-wide association ...
Genetic predisposition of thyrotoxicosis was associated with the onset of knee OA (autoimmune hyperthyroidism: odds ratio [OR]: 1.05, 95% confidence interval [CI]: 1.03-1.07, FDR < 0.001; thyrotoxicos...
This study provides MR evidence supporting causal association of thyrotoxicosis with knee OA in European population, whereas OA may have no causal effects on thyrotoxicosis....