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Titolo:
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
Autore:
de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V;
Indirizzi:
Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France Hop Necker Enfants Malad Paris France 15 Genet, F-75743 Paris 15, France Hop Necker Enfants Malad, Dept Pediat, Paris, France Hop Necker Enfants Malad Paris France Malad, Dept Pediat, Paris, France Hop Bichat, Serv Biochim, Paris, France Hop Bichat Paris FranceHop Bichat, Serv Biochim, Paris, France Dept Pediat, Marseille, France Dept Pediat Marseille FranceDept Pediat, Marseille, France Dept Genet, Rouen, France Dept Genet Rouen FranceDept Genet, Rouen, France Serv Neonatol, Avignon, France Serv Neonatol Avignon FranceServ Neonatol, Avignon, France Dept Genet, Vannes, France Dept Genet Vannes FranceDept Genet, Vannes, France Serv Pediat, Colmar, France Serv Pediat Colmar FranceServ Pediat, Colmar, France Serv Pediat, Compiegne, France Serv Pediat Compiegne FranceServ Pediat, Compiegne, France Serv Pediat, Bordeaux, France Serv Pediat Bordeaux FranceServ Pediat, Bordeaux, France Dept Genet, Montpellier, France Dept Genet Montpellier FranceDept Genet, Montpellier, France Hop St Vincent de Paul, Serv Neurol, F-75674 Paris, France Hop St Vincent de Paul Paris France F-75674 eurol, F-75674 Paris, France Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium Univ Hosp Gasthuisberg Louvain Belgium B-3000 g, B-3000 Louvain, Belgium Univ Gottingen, D-3400 Gottingen, Germany Univ Gottingen Gottingen Germany D-3400 ingen, D-3400 Gottingen, Germany
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 38, anno: 2001,
pagine: 14 - 19
SICI:
0022-2593(200101)38:1<14:ABSOCP>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN-SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; N-GLYCOSYLATION; MANNOSE; SERUM; THERAPY; GOLGI; GENE;
Keywords:
CDG; phosphomannomutase; phosphomannose isomerase; dolichyl-phosphate glucose : mannose; 9 N-acetylglycosamine 2 glucosyltransferase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Cormier-Daire, V Hop Necker Enfants Malad, Dept Genet, 149 Rue Sevres, F-75743 Paris 15, France Hop Necker Enfants Malad 149 Rue Sevres Paris France15
Citazione:
P. de Lonlay et al., "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases", J MED GENET, 38(1), 2001, pp. 14-19

Abstract

Introduction-Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorderscharacterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. Methods-We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin. Results-Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including Liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDGIc patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities tone patient), or multiorgan failure and multiple birth defects tone patient). Conclusions-Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatmentof CDG ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 10:18:34