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Enzymes et coenzymes
Enzymes
Isomerases
Intramolecular oxidoreductases
Aldose-ketose isomerases
Aldose-ketose isomerases : Questions médicales fréquentes
Termes MeSH sélectionnés :
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": "Les symptômes peuvent-ils indiquer un problème d'isomérases ?",
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"position": 7,
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}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des troubles neurologiques peuvent survenir en raison de déséquilibres métaboliques."
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"name": "Comment les symptômes affectent-ils la qualité de vie ?",
"position": 9,
"acceptedAnswer": {
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"text": "Ils peuvent entraîner des limitations dans l'alimentation et des problèmes de santé chroniques."
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},
{
"@type": "Question",
"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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}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques préventifs ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éviter certains sucres peut réduire le risque de complications chez les porteurs de mutations."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"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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"text": "Le dépistage génétique peut être conseillé pour les familles à risque d'anomalies enzymatiques."
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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."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette condition ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement inclut des régimes alimentaires spécifiques et des suppléments enzymatiques."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"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."
}
},
{
"@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."
}
},
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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}
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"name": "Comment les complications affectent-elles la santé globale ?",
"position": 23,
"acceptedAnswer": {
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"text": "Elles peuvent entraîner des problèmes de santé chroniques et affecter la qualité de vie."
}
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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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"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion proactive des symptômes peut réduire le risque de complications graves."
}
},
{
"@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,
"acceptedAnswer": {
"@type": "Answer",
"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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"@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" :
Accurate measurement of clotting factors VIII (FVIII) or IX (FIX) is vital for comprehensive diagnosis and management of patients with hemophilia A or B. The one-stage activated partial thromboplastin...
To evaluate the lifetime cost-effectiveness of recombinant factor IX Fc fusion protein (rFIXFc) and recombinant factor IX (rFIX) for the treatment of hemophilia B (HB) in China....
We developed a decision-analytic Markov model including three health states: alive, requiring surgery, and dead. This model estimated the lifetime cost and quality-adjusted life-years (QALYs) of proph...
Lifetime cost, QALYs, and the incremental cost-effectiveness ratio were calculated, and the results were compared with willingness-to-pay (WTP) thresholds of one to three times the gross domestic prod...
RFIXFc was associated with lower cost and more QALYs than rFIX in both scenarios, which suggested that it is a dominant strategy (more effective and cheaper) for moderate-severe to severe HB in China....
Compared with rFIX, rFIXFc appears to be a cost-effective option for the lifetime management of moderate-severe to severe HB patients in China....
Recombinant factor (F)IX-FIAV has previously been shown to function independently of activated FVIII (FVIIIa) and ameliorate the hemophilia A (HA) phenotype in vitro and in vivo....
The aim of this study was to assess the efficacy of FIX-FIAV in plasma from HA patients using thrombin generation (TG) and intrinsic clotting activity (activated partial thromboplastin time [APTT]) an...
Plasma obtained from 21 patients with HA (>18 years; 7 mild, 7 moderate, and 7 severe patients) was spiked with FIX-FIAV. The FXIa-triggered TG lag time and APTT were quantified in terms of FVIII-equi...
The linear, dose-dependent improvement in the TG lag time and APTT reached its maximum with approximately 400% to 600% FIX-FIAV in severe HA plasma and with approximately 200% to 250% FIX-FIAV in nons...
FIX-FIAV is capable of increasing the FVIII-equivalent activity and coagulation activity in plasma from HA patients, thereby mitigating the HA phenotype. Hence, FIX-FIAV could serve as a potential tre...
Therapy for hemophilia B is aimed at replacing the congenital deficiency of coagulation factor IX (FIX). For replacement therapy, several FIX concentrates derived from donated human plasma or engineer...
In this review, we explore the current FIX replacement options for hemophilia B patients by analyzing the outcomes of their main clinical trials. We cover advances in the FIX molecules with extended h...
The recent introduction of recombinant EHL FIX products has represented a major advance in the therapeutic management of hemophilia B patients, permitting both a reduction of treatment burden and impr...
The development of inhibitors against factor FIX (FIX) is the most serious complication of FIX replacement therapy in haemophilia B (HB) patients. Currently, only few cohorts of HB inhibitor patients ...
This Chinese nationwide study of HB inhibitor patients explored their risk factors for FIX inhibitor development and experience on their management....
We retrospectively analysed patient characteristics, F9 genotypes, treatment strategies and outcomes of HB inhibitor patients registered to the Chinese National Registry and Patient Organization Regis...
Forty-four unique HB inhibitor patients were identified in 4485 unique HB patients registered by year 2021 to the two Registries. Inhibitor diagnosis were usually delayed and the low prevalence (.98%)...
This study reports the largest Chinese cohort of HB inhibitor patients. Large deletions were most significantly associated with inhibitor development. Low-dose ITI might be feasible for FIX inhibitor ...
Based on observations indicating that the γ-carboxylase enzyme has a lower affinity for the protein C (PC) propeptide and that the γ-carboxylase region in the PC propeptide has a higher net charge, ex...
Continuous factor VIII (FVIII) or factor IX (FIX) infusions are commonly used for patients with hemophilia A (HA) or B (HB) undergoing surgery to secure perioperative hemostasis. To describe differenc...
The development of inhibitory antibodies (inhibitors) in persons with hemophilia B (PwHB) causes significant morbidity. Data on the impact of the F9 variant and immune tolerance induction (ITI) outcom...
Persons with severe HB in the Nordic countries were enrolled and information on F9 variants, inhibitors, ITI and complications were collected. Analyses of anti-FIX antibodies with a fluorescence-immun...
Seventy-nine PwHB were enrolled. Null variants were seen in 33 (42 %) PwHB and 12 (15 %) had a current or former inhibitor. Eleven (92 %) of the inhibitor patients had experienced allergic manifestati...
A high proportion of severe F9 gene defects among persons with severe HB in the Nordic countries may explain the observed relatively high prevalence of inhibitors. ITI success was independent of the F...
An important aspect of improving care for people with hemophilia B (HB) is developing optimal treatment strategies. Here we aimed to provide in-silico evidence, comparing the estimated optimal posolog...
The associations of plasma factor VIII (FVIII) and factor IX (FIX) levels with risk of venous thromboembolism (VTE) are not well defined. We performed a systematic review and meta-analysis of these as...
Random effects inverse-variance weighted meta-analysis was used to estimate pooled odds ratios for comparisons across equal quartiles of the distributions and 90 % thresholds (higher versus lower), an...
Among 15 studies (5327 cases) the pooled odds ratio of VTE for the fourth versus first quarter was 3.92 (95 % confidence interval 1.61, 5.29) for FVIII level; and among 7 studies (3498 cases) 1.57 (1....
We confirm increases in risk of VTE across population distributions of FVIII and FIX levels. Levels above the 90th percentile have almost twice the risk for FIX level compared to levels below; three-f...