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Titolo:
"Carbohydrate-deficient glycoprotein" syndrome.
Autore:
de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N;
Indirizzi:
Hop Necker Enfants Malad, Dept Pediat, F-75743 Paris 15, France Hop NeckerEnfants Malad Paris France 15 ediat, F-75743 Paris 15, France Hop Necker Enfants Malad, Dept Genet, F-75743 Paris, France Hop Necker Enfants Malad Paris France F-75743 net, F-75743 Paris, France Hop Bichat, Serv Biochim A, F-75877 Paris 18, France Hop Bichat Paris France 18 hat, Serv Biochim A, F-75877 Paris 18, France
Titolo Testata:
ARCHIVES DE PEDIATRIE
fascicolo: 2, volume: 7, anno: 2000,
pagine: 173 - 184
SICI:
0929-693X(200002)7:2<173:"GS>2.0.ZU;2-2
Fonte:
ISI
Lingua:
FRE
Soggetto:
SYNDROME TYPE-I; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SYNDROME TYPE 1A; CDG SYNDROME; OLIVOPONTOCEREBELLAR ATROPHY; PROTEIN GLYCOSYLATION; PRENATAL-DIAGNOSIS; POTENTIAL THERAPY; N-GLYCOSYLATION; MANNOSE;
Keywords:
carbohydrate deficient glycoprotein syndrome phosphomannomutase deficiencyphosphomannose-isomerase deficiency;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
66
Recensione:
Indirizzi per estratti:
Indirizzo: de Lonlay, P Hop Necker Enfants Malad, Dept Pediat, 149 Rue Sevres, F-75743 Paris 15, France Hop Necker Enfants Malad 149 Rue Sevres Paris France 15ance
Citazione:
P. de Lonlay et al., ""Carbohydrate-deficient glycoprotein" syndrome.", ARCH PED, 7(2), 2000, pp. 173-184

Abstract

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects, their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency; cardiomyopathy: pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration, emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation associated with severe gastrointestinal disorder dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined andthe clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types la,Ib, Ic, II). (C) 2000 Editions scientifiques et medicales Elsevier SAS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 09:30:04