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Enzymes et coenzymes
Enzymes
Hydrolases
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Hexosaminidases
Hexosaminidases : Questions médicales fréquentes
Diagnostic
5
Déficience enzymatique
Tests génétiques
Tests sanguins
Analyse d'urine
Symptômes neurologiques
Troubles du développement
Fiabilité des tests
Diagnostic
Antécédents familiaux
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5
Troubles neurologiques
Retard de développement
Hexosaminidase A
Hexosaminidase B
Petite enfance
Âge d'apparition
Anomalies oculaires
Troubles de la marche
Irréversibilité
Déficience
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5
Prévention
Dépistage génétique
Conseil génétique
Transmission génétique
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Population à risque
Mesures préventives
Information familiale
Vaccinations
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5
Soins symptomatiques
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Gestion des symptômes
Soins palliatifs
Qualité de vie
Complications
5
Complications neurologiques
Développement
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Nature génétique
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Irréversibilité
Complications
Facteurs de risque
5
Antécédents familiaux
Origines ethniques
Porteurs de gènes
Transmission
Facteurs environnementaux
Origine génétique
Antécédents médicaux
Maladies génétiques
Tests génétiques
Évaluation du risque
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"text": "Les symptômes peuvent apparaître dès la petite enfance, souvent avant l'âge de 5 ans."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de développement."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications ne sont généralement pas évitables en raison de la nature génétique de la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de décès associés ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de déficience en hexosaminidases peuvent entraîner un risque accru de décès."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent gravement affecter la qualité de vie des patients et de leurs familles."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les complications liées aux déficiences en hexosaminidases sont généralement irréversibles."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des origines ethniques spécifiques."
}
},
{
"@type": "Question",
"name": "Les porteurs de gènes sont-ils à risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les porteurs de gènes récessifs peuvent transmettre la déficience à leurs enfants."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les déficiences en hexosaminidases sont principalement d'origine génétique, sans lien environnemental."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents médicaux familiaux de maladies génétiques augmentent le risque de déficiences."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests pour évaluer le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests génétiques peuvent évaluer le risque de transmettre des déficiences en hexosaminidases."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 01/01/2026
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Applied Chemistry, College of Science , China Agricultural University , Beijing 100193 , P.R. China.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Applied Chemistry, College of Science , China Agricultural University , Beijing 100193 , P.R. China.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Applied Chemistry, College of Science , China Agricultural University , Beijing 100193 , P.R. China.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Applied Chemistry, College of Science , China Agricultural University , Beijing 100193 , P.R. China.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Melbourne Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science & Biotechnology Institute, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Melbourne Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science & Biotechnology Institute, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, The Russian Academy of Sciences, 19991 Moscow, Russia.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Protein Biochemistry and Glycobiology Laboratory, Department of Biochemistry, School of Life Sciences, University of Hyderabad, Hyderabad 500046, India. Electronic address: nsksl@uohyd.ernet.in.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Gene Therapy Center, University of North Carolina, Chapel Hill, NC, USA.
Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA.
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Centre for Neuroscience Studies, Queen\'s University, Kingston, ON K7L 3N6, Canada.
Department of Biomedical and Molecular Sciences, Queen\'s University, Kingston, ON K7L 3N6, Canada.
Medical Genetics/Departments of Pediatrics, Queen\'s University, Kingston, ON K7L 2V7, Canada.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Emergency Medical Service, University of Warmia and Mazury in Olsztyn, 10-561 Olsztyn, Poland.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Department of Psychiatry, Medical University of Bialystok, 15-272 Bialystok, Poland.
Publications dans "Hexosaminidases" :
2 publications dans cette catégorie
Affiliations :
Austrian Centre of Industrial Biotechnology (acib), Petersgasse 14, 8010 Graz, Austria. bernd.nidetzky@tugraz.at.
Publications dans "Hexosaminidases" :
Engineering glycoside hydrolases is a major route to obtaining catalysts forming glycosidic bonds. Glycosynthases, thioglycoligases, and transglycosylases represent the main strategies, each having ad...
Dietary supplementation of gamma-linolenic acid (GLA) in the form of a commercial drug neoglandin (containing GLA and vitamin E), in people following alcohol abuse allows bypassing of the ineffective ...
The serum and urine were collected from men with alcohol dependence, treated (...
Our study on alcoholic men not treated with neoglandin indicates a significantly higher concentration of the serum and urinary HEX activity (nKat/L) on day 1 compared to days 7, 10, 14 and 30 (...
Neoglandin supplementation in alcoholic men significantly slows down the catabolism of glycoconjugates, thus reducing the effects of ethanol poisoning that are harmful to the kidneys. Neoglandin reduc...
Determining the activity of lysosomal β-hexosaminidase in cells is of great importance for understanding the roles that these enzymes play in pathophysiological events. Herein, we designed the new flu...
The Golgi apparatus plays a crucial role in the delivery of lysosomal enzymes. Golgi Reassembly Stacking Proteins, GRASP55 and GRASP65, are vital for maintaining Golgi structure and function. GRASP55 ...
The aim of our study was to investigate serum chitotriosidase level in tuberculosis patients, its relationship with microbiological and clinical parameters, and response to treatment....
This longitudinal panel study included 149 patients with confirmed TB disease. Serum chitotriosidase activity was measured at the beginning and the end of treatment. Factors associated with chitotrios...
Out of 149 study participants, 71(47.7%) were female. The mean age was 53.0 (SD = 18.2). Majority of cases were new 118(79.2), predominantly 145 (97.3%) having pulmonary tuberculosis. More than half o...
The results of our study showed that serum chitotriosidase values are strong biomarkers for starting anti TB treatment and for treatment monitoring, since decrease in serum chitotriosidase level can p...
N-Acetyl-glucosaminidases (GlcNAcases) are exoenzymes found in a wide range of living organisms, which have gained great attention in the treatment of disorders related to diabetes, Alzheimer's, Tay-S...
Multiple sclerosis (MS) is characterized by heterogeneity in disease course and prediction of long-term outcome remains a major challenge. Here, we investigate five myeloid markers - CHIT1, CHI3L1, sT...
Inflammatory bowel diseases are chronic pathologies characterized by a complex interplay of genetic and environmental factors, as well as aberrant immune responses. This study aimed to investigate inf...
284 patients were classified based on clinical, endoscopic, and histopathological criteria. Systemic inflammation was evaluated using C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), an...
The peak number of patients reporting endoscopic activity occurred in autumn for Crohn's disease (82%) and spring for ulcerative colitis (95%). Regarding histological activity, spring saw the highest ...
The evolution of flares and inflammatory markers in Crohn's disease and ulcerative colitis displayed distinct seasonal patterns. Systemic inflammation did not consistently parallel intestinal inflamma...
A new class of compounds inhibiting de-O-glycosylation of proteins has been identified. Highly substituted diaminocyclopentanes are impressively selective reversible non-transition state O-β-N-acetyl-...
Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of pros...