Вродени дефекти на гликозилиране
Keywords:
вродени дефекти на гликозилиране
Abstract
Вродените дефекти на гликозилиране представляват група от редки генетични, заболявания, дължащи се на дефекти в комплексния процес гликозилиране. По настоящем са известни повече от 71 типа, а броят им непрекъснато се увеличава, тъй като гените, които участват в процеса на гликозилиране, представляват 1-2% от човешкия геном. Те се характеризират със значителна клинична хетерогенност, като при повечето от тях се установяват неврологични симптоми. През последните 20 години са разработени ефективни методи за скрининг, диагноза и лечение на вродените дефекти на гликозилиране.
References
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Соколов Т. Костните тумори у децата. София, Изд. Къща ДЛ&М ООД, 2006, 59.
Станчева М. Скрининг за вродени дефекти на гликозилиране при деца с изоставане в умственото развитие, дисертационен труд, 2013 г.
Чамова Т., Е. Титянова, И. Търнев, Р. Димова. Миосонографна оценка на триглавия мускул на подбедрицата при автозомно-рецесивна наследствена миопатия с телца на включване. Невросонология и мозъчна хемодинамика, 7, 2011, 2, 93-100.
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Aebi M., A. Helenius, B. Schenk, R. Barone, A. Fiumara, E. Berger. Carbohydrate-deficient syndromes become congenital disorders of glycosylation: and updated nomenclature for CDG. First Int. Workshop on CDGS /letter/. – Glycoconj J., 16, 1999, 669-671.
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Babovic-Vuksanovic D., M. Patterson, W. Schwenk, J.F. O'Brien, J. Vockley, H. Freeze, D. Mehta, V. Michels. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. - J. Pediat., 135, 1999, № 6, 775-781.
De Koning T., P. Nikkels, L. Dorland, J. Bekhof, J. de Schrijver, J. van Hattum, O. van Diggelen, M. Duran, R. Berger and B. Poll-The. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency. - Virchows Arch., 437, 2000, № 1, 101-105.
De Lonlay P., N. Seta. The clinical spectrum of phosphomannoseisomerase deficiency, with an evaluation of mannose treatment of CDG-Ib. - Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1792, 2009, № 9, 841-843.
Niehues R., M. Hasilik. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. - MMW Fortschr Med., 142, 2000, Suppl. 3, 171-2.
Harms H., K. Zimmer, K. Kurnik, R .Bertele-Harms, S. Weidinger, K. Reiter. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. - Acta Paediatr., 91, 2002, №10, 1065-72.
De Lonlay P., M. Cuer, S. Vuillaumier-Barrot, G. Beaune, P. Castelnau, M. Kretz, G. Durand, J-M. Saudubray, N. Seta. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. - J Pediat., 135, 1999, № 3, 379-383.
Penel-Capelle D., D. Dobbelaere, J. Jaeken, A. Klein, M. Cartigny, J. Weill. Congenital disorder of glycosylation 1b(CDG-Ib)without gastrointestinal symptoms. - J Inherit Metab Dis., 26, 2003, 83-5.
Радева Б. Диагноза на острата метаболитна чернодробна недостатъчност. - GP News, 2005, №1, 26-27.
Jaeken J., H. van Eick, C. van der Heul, L. Corbeel, R. Eeckels, E. Eggermont. Sialic acid deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. - Clin Chim Acta, 144, 1984, № 2-3, 245–247.
Westermeier R. Isoelectrofocusing. - In: Electrophoresis in practice (A guide to methods and applications of DNA and protein separations. Fourth revised and enlarged Edition. Weinheim, Wiley-VCH-Verlag GmbH &CoKGaA, 2008, ISBN 3-527-31181-5, 51-64.
van Geet C., J. Jaeken, K. Freson, T. Lenaerts, J. Arnout, J. Vermylen, M. Hoylaerts. Congenital disorders of glycosylation Ia and IIa are associated with different prime hemostatic complications. - J Inherit Dis., 24, 2001, №4, 477-492.
Edwards M., F. Mc Kenzie, S. O`Callagan, D. Somerset, P. Woodford, J. Spilsbury, M. Fietz, J. Fletcher. Prenatal diagnosis of congenital disorder of glycosylation type Ia by cordocentesis and transferrin isoelectrofocusing of serum of a 27 week fetus with non immune hydrops. – Prenat Diagn., 26, 2006, № 10, 985-988.
Carchon H., C. Ndosimao, S. van Aerschot, J. Jaeken. Use of serum on Guthrie cards in screening for CDG. – Clin Chem., 52, 2006, № 4, 774-775.
Clayton P., B. Winchester, E. Di Tamazo, G. Keir G, Rodeck K. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in fetus. - Lancet , 341, 1993, № 8850, 956.
Dupre T., M. Cuer, S. Barrot, A. Barnier, V. Cormier-Daire, A. Munnich, G. Durand, N. Seta. Congenital Disorder of Glycosylation Ia with Deficient Phosphomannomutase Activity but Normal Plasma Glycoprotein Pattern. - Clinical chemistry, 47, 2001, № 1, 132-134.
Hahn S., S. Minnich, J. O`Brien. Stabilization of hypoglycosylation in a patient with CDG type Ia. - J Inherit Metab Dis. , 29, 2006, № 1, 235-237.
Stibler H., F. Skovby. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. -Pediatr Neurol., 11, 1994, №1, 71.
Fletcher J., G. Matthijs, J. Jaeken, E. Van Schaftingen, P. Nelson. Carbohydrate–deficient glycoprotein syndrome: beyond the screen. – J Inherit Metab Dis., 23, 2000, №4, 396-98.
Aebi M., T. Hennet. Congenital disorders of glycosylation: genetic model systems lead the way. -Trends Cell Biol., 11, 2001, № 3, 136-41.
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Published
2016-06-15
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Станчева-Иванова М. Вродени дефекти на гликозилиране. Редки болести и лекарства сираци [Internet]. 2016Jun.15 [cited 2024Dec.26];7(2):15-. Available from: https://journal.raredis.org/index.php/RBLS/article/view/52
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