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Titolo:
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
Autore:
Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P;
Indirizzi:
Hop Charles Nicolle, Serv Genet Med, F-76031 Rouen, France Hop Charles Nicolle Rouen France F-76031 enet Med, F-76031 Rouen, France Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium tr Human Genet, Louvain, Belgium CHU Bichat Claude Bernard, Biochim Lab A, Paris, France CHU Bichat Claude Bernard Paris France rd, Biochim Lab A, Paris, France Hop Charles Nicolle, Serv Radiol, Rouen, France Hop Charles Nicolle Rouen France es Nicolle, Serv Radiol, Rouen, France Hop Necker Enfants Malad, Serv Genet Med, Paris, France Hop Necker EnfantsMalad Paris France ad, Serv Genet Med, Paris, France
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 101, anno: 2001,
pagine: 46 - 49
SICI:
0148-7299(20010601)101:1<46:NPOACD>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOMUTASE DEFICIENCY; PRENATAL-DIAGNOSIS; MUTATIONS; SERUM; PMM2; IE;
Keywords:
carbohydrate-deficient glycoprotein syndrome type Ia; congenital disorders of glycosylation; mental retardation; autosomal recessive; phosphomannomutase; cerebellar atrophy; PMM2; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Drouin-Garraud, V Hop Charles Nicolle, Serv Genet Med, F-76031 Rouen, France Hop Charles Nicolle Rouen France F-76031 Rouen, France
Citazione:
V. Drouin-Garraud et al., "Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling", AM J MED G, 101(1), 2001, pp. 46-49

Abstract

The congenital disorders of glycosylation (CDG) constitute a new group of recessively inherited metabolic disorders that are characterized biochemically by defective glycosylation of proteins. Several types have been identified. CDG-Ia, the most frequent type, is a multisystemic disorder affecting the nervous system and numerous organs including liver, kidney, heart, adipose tissue, bone, and genitalia. A phosphomannomutase (PMM) deficiency has been identified in CDG-Ia patients and numerous mutations in the PMM2 gene have been identified in patients with a PMM deficiency. We report on a French family with 3 affected sibs, with an unusual presentation of CDG-Ia, remarkable for 1) the neurological presentation of the disease, and 2) the dissociation between intermediate PMM activity in fibroblasts and a decreased PMM activity in leukocytes, This report shows that the diagnosis of CDG-Ia must be considered in patients with non-regressive early-onset encephalopathy with cerebellar atrophy, and that intermediate values of PMM activity infibroblasts do not exclude the diagnosis of CDG-Ia, (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 20:00:54