- Déficit en glucose-6-phosphate déshydrogénase
- Bibliographie
- Articles scientifiques: 2015, 2014, 2013, 2012, 2011, 2010, 2009, 2008, 2007, 2006, 2005, 2004, <2004
| Synonyme (en) | G6PD deficiency |
| Français | Déficit en glucose-6-phosphate déshydrogénase |
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Synonyme (fr)
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Déficit en G6PD
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Allemand
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Glucose-6-phosphate dehydrogenase Mangel
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Gène
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G6PD (glucose-6-phosphate dehydrogenase)
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| Chromosome |
ECAX
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OMIA#
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OMIA 000416-9796 : Glucose-6-phosphate dehydrogenase deficiency
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NCBI gene
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Mutation
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G to A mutation; arginine > histidine
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Mode de transmission
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Pas décrit précisément (récessif ?)
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Caractères / symptômes
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Déficit enzymatique (glucose-6-phosphate déshydrogénase) des globules rouges (érythrocytes). Lésions oxydatives des érythrocytes => anémie hémolytique persistante, hyperbilirubinémie;anomalies morphologiques des érythrocytes: eccentrocytose, pinocytose, anisocytose, macrocytose, corps de Howell-Jolly.
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| Contraintes |
Restriction héréditaire d’une fonction organique (globules rouges). Dommages qui provoquent des pertes de fonctionnalité affectant l’état général. Les critères déterminants pour l’évaluation des contraintes sont en particulier:
Stratégie d’élevage et mesures
Parents
Accouplements ciblés, modification de la stratégie d’élevage (les parents d’animaux atteints doivent être exclus de l’élevage) Descendants atteints
Diagnostic (laboratoire: activité de la G6PD érythrocytaire), diagnostic différentiel (intoxication, p. ex. Vicia Faba Spp); les animaux atteints doivent être exclus de l’élevage; euthanasie dans le pire des cas |
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Races
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American Saddlebred
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| Prévalence (%) | Maladie rare |
| Fondateur | Pas publié |
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Test ADN
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NON
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Remarques
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--
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(en) GIGER U. (2010). Hereditary Erythrocyte Enzyme Abnomralities. In Schalm's Veterinary Hematology. 6th Edition, Douglas J. Weiss (Editor), K. Jane Wardrop (Editor). Wiley-Blackwell. Chapter 28
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ISBN: 978-0-8138-1798-9
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Contenu, auteurs: http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813817986.html
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[Consulté: 17.10.2015]
(en) HARVEY JW. (2006). Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Veterinary Clinical Pathology, 35(2): 144-156
- DOI: 10.1111/j.1939-165X.2006.tb00108.x
- Veterinary Clinical Pathology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1939-165X
- Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-165X.2006.tb00108.x/abstract>
- Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-165X.2006.tb00108.x/pdf>
- [Consulté: 15.01.2015]
(en) RAUDSEPP T, LEE EJ, KATA SR, BRINKMEYER C, MICKELSON JR, SKOW LC, WOMACK JE, CHOWDHARY BP. (2004). Exceptional conservation of horse–human gene order on X chromosome revealed by high-resolution radiation hybrid mapping. Proceedings of the National Academy of Sciences of the United States of America, 101(8): 2386-2391
- DOI: 10.1073/pnas.0308513100
- Proceedings of the National Academy of Sciences of the United States of America http://www.pnas.org/
- Abstract <http://www.pnas.org/content/101/8/2386.short>
- Full text <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC356960/>
- Pdf <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC356960/pdf/1012386.pdf>
- [Consulté: 17.10.2015]
(pt) ALMOSNY NRP, SOARES FMD, CARDOSO A, DE VASCONCELOS TC, OLIVEIRA MONTEIRO AD. (2000). Avaliação da deficiência eritrocitária da glicose-6-fosfato desidrogenase e valores hematológicos de eqüinos de salto [Evaluation of the glucose-6-phosphate dehydrogenase deficiency and haematologic values of jumping horses]. Revista Brasileira de Ciência Veterinária, 7(1): 14-16
- DOI: 10.4322/rbcv.2015.167
- Revista Brasileira de Ciência Veterinária http://www.uff.br/rbcv/ojs/index.php/rbcv
- Abstract (pt) < http://www.uff.br/rbcv/ojs/index.php/rbcv/article/view/1151>
- Abstract (en) <http://www.cabdirect.org/abstracts/20002219929.html;jsessionid=F2D1E7C79AFF27369135049617B9F64E444>
- Pdf (pt) < http://www.uff.br/rbcv/ojs/index.php/rbcv/article/view/1151/1047>
- [Consulté: 17.10.2015]
(en) HARVEY JW, STOCKHAM SL, SCOTT MA, JOHNSON PJ, DONALD JJ, CHANDLER CJ. (2003). Methemoglobinemia and eccentrocytosis in equine erythrocyte flavin adenine dinucleotide deficiency. Veterinary Pathology, 40(6): 632-642
- DOI: 10.1354/vp.40-6-632
- Veterinary Pathology http://vet.sagepub.com/
- Full text <http://vet.sagepub.com/content/40/6/632.full>
- Pdf <http://vet.sagepub.com/content/40/6/632.full.pdf+html>
- [Consulté: 17.10.2015]
(en) MATHAI CK, OHNO S, BEUTLER E. (1966). Sex-linkage of the glucose-6-phosphate dehydrogenase gene in Equidae. Nature, 210: 115 - 116
- DOI: 10.1038/210115a0
- Nature http://www.nature.com/nature/
- Abstract <http://www.nature.com/nature/journal/v210/n5031/abs/210115a0.html>
- Pdf <http://www.nature.com/nature/journal/v210/n5031/pdf/210115a0.pdf>
- [Consulté: 15.01.2015]
(en) NONNEMAN D, STOCKHAM SL, SHIBUYA H, MESSER NT, JOHNSON GS. (1993). A missense mutation in the glucose-6-phosphate dehydrogenase gene associated with hemolytic anemia in an American saddlebred horse [abstract]. Blood, 82(suppl 1):466a, cit in HARVEY JW. (2006). Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Veterinary Clinical Pathology, 35(2): 144-156
(en) STOCKHAM SL, HARVEY JW, KINDEN DA. (1994). Equine glucose-6-phosphate dehydrogenase deficiency. Veterinary Pathology, 31(5): 518-27
- DOI: 10.1177/030098589403100503
- Veterinary Pathology http://vet.sagepub.com/
- Abstract <http://vet.sagepub.com/content/31/5/518.abstract>
- Pdf <http://vet.sagepub.com/content/31/5/518.long>
- [Consulté: 15.01.2015]
(en) TRUJILLO JM, WALDEN B, O'NEIL P, ANSTALL HB. (1965). Sex-linkage of glucose-6-phosphate dehydrogenase in the horse and donkey. Science, 148(3677): 1603-1604.
- DOI: 10.1126/science.148.3677.1603
- Science http://www.sciencemag.org/magazine
- Abstract <http://www.sciencemag.org/content/148/3677/1603.short>
- Pdf <http://www.sciencemag.org/content/148/3677/1603.full.pdf>
- [Consulté: 15.01.2015]