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Enzymes et coenzymes
Enzymes
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Hydroxymethylglutaryl-coA synthase
Hydroxymethylglutaryl-coA synthase : Questions médicales fréquentes
Diagnostic
5
Déficience enzymatique
Tests génétiques
Dosage enzymatique
Métabolites
Fatigue
Troubles neurologiques
Imagerie médicale
Complications
Biopsie musculaire
Anomalies enzymatiques
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5
Douleurs musculaires
Déficience enzymatique
Troubles neurologiques
Convulsions
Prévention
5
Prévention
Diagnostic précoce
Tests génétiques
Prévention
Régime alimentaire
Glucides complexes
Surveillance
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5
Régime alimentaire
Suppléments
Médicaments
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Thérapie génique
Recherche
Nutrition
Crises métaboliques
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Physiothérapie
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5
Complications
Troubles métaboliques
Crises métaboliques
Vomissements
Maladies cardiovasculaires
Risque accru
Complications neurologiques
Traitement rapide
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Alimentation
Complications
Facteurs environnementaux
Métabolisme lipidique
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"name": "Comment diagnostiquer une déficience en HMG-CoA synthase ?",
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"text": "Un diagnostic se fait par des tests génétiques et des analyses biochimiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'HMG-CoA synthase ?",
"position": 2,
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec HMG-CoA synthase ?",
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"text": "Des symptômes incluent fatigue, douleurs musculaires et troubles neurologiques."
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"@type": "Question",
"name": "L'imagerie est-elle utile pour diagnostiquer des troubles liés à HMG-CoA ?",
"position": 4,
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"text": "L'imagerie peut aider à évaluer des complications, mais n'est pas spécifique."
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{
"@type": "Question",
"name": "Peut-on diagnostiquer par biopsie une déficience en HMG-CoA synthase ?",
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{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en HMG-CoA synthase ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent hypoglycémie, acidoses et troubles neurologiques."
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{
"@type": "Question",
"name": "Les douleurs musculaires sont-elles fréquentes avec HMG-CoA ?",
"position": 7,
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"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés à HMG-CoA ?",
"position": 8,
"acceptedAnswer": {
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"text": "Oui, des troubles neurologiques comme des convulsions peuvent survenir."
}
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{
"@type": "Question",
"name": "Comment se manifeste l'hypoglycémie dans ce contexte ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'hypoglycémie peut se manifester par des vertiges, des sueurs et de la confusion."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent varier en fonction de l'âge et de la gravité de la déficience."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés à HMG-CoA ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention passe par un diagnostic précoce et une gestion nutritionnelle."
}
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{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques permettent d'identifier les porteurs et de prévenir les cas."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations diététiques préventives ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un régime riche en glucides complexes et faible en graisses saturées est conseillé."
}
},
{
"@type": "Question",
"name": "Les familles à risque doivent-elles être surveillées ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une surveillance régulière est recommandée pour les familles à risque."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles importantes pour ces patients ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations peuvent prévenir des infections qui aggravent les symptômes."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour la déficience en HMG-CoA ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal inclut des régimes alimentaires spécifiques et des suppléments."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent aider à contrôler les symptômes et les complications."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option pour HMG-CoA ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore une option standard."
}
},
{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate est cruciale pour éviter les crises métaboliques."
}
},
{
"@type": "Question",
"name": "Les soins de soutien sont-ils nécessaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins de soutien comme la physiothérapie peuvent être bénéfiques."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles de la déficience en HMG-CoA ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles métaboliques graves et des atteintes neurologiques."
}
},
{
"@type": "Question",
"name": "Comment les crises métaboliques se manifestent-elles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles se manifestent par des symptômes tels que vomissements, confusion et fatigue extrême."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par une gestion appropriée et précoce."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies cardiovasculaires ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir un risque accru de maladies cardiovasculaires."
}
},
{
"@type": "Question",
"name": "Les complications neurologiques sont-elles réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications neurologiques peuvent être réversibles avec un traitement rapide."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour la déficience en HMG-CoA ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation déséquilibrée peut augmenter le risque de complications."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles aggraver la condition ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les infections peuvent déclencher des crises chez les patients sensibles."
}
},
{
"@type": "Question",
"name": "Le stress a-t-il un impact sur la déficience en HMG-CoA ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress physique ou émotionnel peut aggraver les symptômes et les crises."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains facteurs environnementaux peuvent influencer le métabolisme lipidique."
}
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 25/02/2026
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 04109, United States.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
4 publications dans cette catégorie
Affiliations :
Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 04109, United States.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, United States.
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, United States.
Howard Hughes Medical Institute, Cambridge, Massachusetts 02139, United States.
Bio-inspired Solar Energy Program, Canadian Institute for Advanced Research, Toronto, ON M5G 1M1, Canada.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
3 publications dans cette catégorie
Affiliations :
CAS Key Laboratory of Tropical Plant Resources and Sustainable Use, CAS Center for Excellence in Molecular Plant Sciences, Xishuangbanna Tropical Botanical Garden, Chinese Academy of Sciences, Kunming, 650223, China.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Vita-Salute San Raffaele University, Milan, Italy.
Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, United States.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, United States.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Institute of Natural Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Institute of Natural Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. szhu@inm.u-toyama.ac.jp.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Tanegashima Division, Research Center for Medicinal Plant Resources, National Institutes of Biomedical Innovation, Health and Nutrition, 17007-2 Nakatane-cho, Kumage-Gun, Kagoshima, 891-3604, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Showa Pharmaceutical University, 3-3165 Higashi-Tamagawagakuen, Machidashi, Tokyo, 194-8543, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Tanegashima Division, Research Center for Medicinal Plant Resources, National Institutes of Biomedical Innovation, Health and Nutrition, 17007-2 Nakatane-cho, Kumage-Gun, Kagoshima, 891-3604, Japan.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Institute of Natural Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. katsukok@inm.u-toyama.ac.jp.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Molecular Biology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA. Electronic address: dgrahame55@gmail.com.
Publications dans "Hydroxymethylglutaryl-coA synthase" :
Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) is the main enzyme involved in ketogenesis. It is an essential enzyme for the catalysis of β-oxidation-derived-acetyl-CoA and acetoacetyl ...
In this study, we aimed to investigate previously unrecognized lipid metabolic perturbations in tamoxifen-resistant breast cancer (BC) by conducting comprehensive metabolomics and transcriptomics anal...
Comprehensive metabolomics (CE-TOFMS, LC-TOFMS) and transcriptiomics analysis were performed to characterize metabolic pathways in tamoxifen-resistant BC cells. The upregulation of HMGCS2 were verifie...
We revealed that the level of HMGCS2 was highly elevated in both tamoxifen-resistant T47D sublines (T47D/TR) and clinical refractory tumor specimens from patients with ER+ breast cancer, who had been ...
Enhanced ketogenesis with upregulation of HMGCS2 is a potential metabolic vulnerability of tamoxifen-resistant BC that offers a new therapeutic opportunity for treating patients with ER+ BC that are r...
Cuticular wax, forming the first line of defense against adverse environmental stresses, comprises very long-chain fatty acids (VLCFAs) and their derivatives. 3-Ketoacyl-CoA synthase (KCS) is a rate-l...
Coenzyme A (CoA), which is widely distributed and vital for cellular metabolism, is a critical molecule essential in both synthesizing and breaking down key energy sources in the body. Inborn errors o...
Statins are competitive inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (HMGCR), and exert adverse effects on mitochondrial function, although the mechanisms underlying these e...
We established a new mouse strain using the Cre/loxP system, which enabled whole-body deletion of Hmgcr expression. These mice were crossed with Rosa26...
Lack of Hmgcr expression resulted in lethality, due to acute liver damage caused by rapid disruption of mitochondrial fatty acid β-oxidation and very high accumulation of long-chain (LC) acylcarnitine...
Our findings suggest that HMGCR is crucial for maintaining energy metabolism balance, and its activity is necessary for functional mitochondrial β-oxidation. Moreover, statin-induced adverse reactions...
HMGCS2 (mitochondrial 3-hydroxy-3-methylglutaryl-COA synthase 2) plays a pivotal role as a control enzyme in ketogenesis, and its association with the amyloid-β protein precursor (AβPP) in mitochondri...
Our study aimed at identifying repurposed drugs using the DrugBank database capable of inhibiting HMGCS2 activity....
Exploiting the power of drug repurposing in conjunction with virtual screening and molecular dynamic (MD) simulations against 'HMGCS2', we present new in-silico insight into structure-based drug repur...
The initial molecules were screened for their binding affinity to HMGCS2. Subsequent interaction analyses and extensive 300 ns MD simulations were conducted to explore the conformational dynamics and ...
The study revealed that HMGCS2 forms stable protein-ligand complexes with Penfluridol and Lurasidone. Our findings indicate that Penfluridol and Lurasidone competitively bind to HMGCS2 and warrant the...
Long-chain acyl-coenzyme A (CoA) synthase 4 (ACSL4) is an enzyme that esterifies CoA into specific polyunsaturated fatty acids, such as arachidonic acid and adrenic acid. Based on accumulated evidence...
The microbial chiral product (R)-3-hydroxybutyrate (3-HB) is a gateway to several industrial and medical compounds. Acetyl-CoA is the key precursor for 3-HB, and several native pathways compete with 3...
Five E. coli GltA variants were examined for 3-HB production via heterologous overexpression of a thiolase (phaA) and NADPH-dependent acetoacetyl-CoA reductase (phaB) from Cupriavidus necator. In shak...
This study demonstrates that GltA variants offer a means to affect the generation of acetyl-CoA derived products. This approach should benefit a wide range of acetyl-CoA derived biochemical products i...
3-Ketoacyl-CoA synthase (KCS) is the key rate-limiting enzyme for the synthesis of very long-chain fatty acids (VLCFAs) in plants, which determines the carbon chain length of VLCFAs. However, a compre...
The Wood-Ljungdahl Pathway is a unique biological mechanism of carbon dioxide and carbon monoxide fixation proposed to operate through nickel-based organometallic intermediates. The most unusual steps...