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Titolo:
FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A
Autore:
KJAERGAARD S; KRISTIANSSON B; STIBLER H; FREEZE HH; SCHWARTZ M; MARTINSSON T; SKOVBY F;
Indirizzi:
RIGSHOSP 4062,JULIANE MARIE CTR,DEPT CLIN GENET,9 BLEGDAMSVEJ DK-2100COPENHAGEN O DENMARK RIGSHOSP,DEPT CLIN GENET DK-2100 COPENHAGEN DENMARK SAHLGRENS UNIV HOSP E,DEPT PAEDIAT GOTHENBURG SWEDEN SAHLGRENS UNIV HOSP E,DEPT CLIN GENET GOTHENBURG SWEDEN KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM SWEDEN BURNHAM INST LA JOLLA CA 92037
Titolo Testata:
Acta paediatrica
fascicolo: 8, volume: 87, anno: 1998,
pagine: 884 - 888
SICI:
0803-5253(1998)87:8<884:FOSMTO>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; PHOSPHOMANNOMUTASE DEFICIENCY; HEALTHY-SUBJECTS; FAMILIES; GENE;
Keywords:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOPROTEINS; MANNOSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
S. Kjaergaard et al., "FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A", Acta paediatrica, 87(8), 1998, pp. 884-888

Abstract

Carbohydrate-deficient glycoprotein syndrome type 1A (CDGS1A) is an inherited disorder with multi-systemic abnormalities resulting from failure to generate sufficient lipid-linked oligosaccharide precursor or to transfer the sugar chain to many glycoproteins. Cultured fibroblasts from these patients have reduced incorporation of mannose into glycoproteins which can be corrected by adding D-mannose to the culture medium. Providing dietary mannose to elevate mannose concentrations in vivo therefore might remedy some of the underglycosylation in the patients. Five children with CDGS1A aged 15 months to 14 y completed a protocol of enteral supplementation with D-mannose 100 mg/kg every 3 h for 9 d. The mean S-mannose level increased from 32 mu M (range 22-42 mu M) to a trough value of 72 mu M (range 39-103 mu M). NO serious side effects were observed. Surprisingly, the mean serum concentration of four glycoproteins (transferrin, alpha 1-antitrypsin, antithrombin, and thyroxine-binding globulin) tended to decrease, and the mean serum concentration of carbohydrate-deficient transferrin (CDT) increased. Furthermore, the initially present abnormal isoforms of these glycoproteinsand of protein C became more prominent and/or additional abnormal isoforms appeared. This short-term trial does not support a benefit of mannose to the deficient glycosylation of CDGS1A patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:21:16