Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

被引：207

作者：

Marquardt, T ^{[1
]}

Denecke, J ^{[1
]}

机构：

[1] Klin & Poliklin Kinderheilkunde, D-48149 Munster, Germany

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2003年 / 162卷 / 06期

关键词：

CDG; LAD II; CDA II; HEMPAS; glycosylation;

D O I：

10.1007/s00431-002-1136-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.

引用

页码：359 / 379

页数：21

共 148 条

[1]

Adamowicz M, 1996, EUR J PEDIATR, V155, P347

[2]

Aebi M, 2000, GLYCOBIOLOGY, V10, pIII

[3]

Aebi M, 1999, Glycoconj J, V16, P669

[4] Cloning and expression of a proteoglycan UDP-galactose:β-xylose β1,4-galactosyltransferase I -: A seventh member of the human β4-galactosyltransferase gene family [J].

Almeida, R ;

Levery, SB ;

Mandel, U ;

Kresse, H ;

Schwientek, T ;

Bennett, EP ;

Clausen, H .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (37) :26165-26171

[5] Oral ingestion of mannose elevates blood mannose levels: A first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I [J].

Alton, G ;

Kjaergaard, S ;

Etchison, JR ;

Skovby, F ;

Freeze, HH .

BIOCHEMICAL AND MOLECULAR MEDICINE, 1997, 60 (02) :127-133

[6] CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPES 1 AND 2 - ABERRANT PATTERN OF ERYTHROCYTE-MEMBRANE PROTEINS IN CDA II, AS REVEALED BY 2-DIMENSIONAL POLYACRYLAMIDE-GEL ELECTROPHORESIS [J].

ANSELSTETTER, V ;

HORSTMANN, HJ ;

HEIMPEL, H .

BRITISH JOURNAL OF HAEMATOLOGY, 1977, 35 (02) :209-&

[7] REGULATION OF THE GLYCOSYLATIONS OF COLLAGEN HYDROXYLYSINE IN CHICK-EMBRYO TENDON AND CARTILAGE CELLS [J].

ANTTINEN, H ;

HULKKO, A .

BIOCHIMICA ET BIOPHYSICA ACTA, 1980, 632 (03) :417-427

[8] Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome [J].

Babovic-Vuksanovic, D ;

Patterson, MC ;

Schwenk, WF ;

O'Brien, JF ;

Vockley, J ;

Freeze, HH ;

Mehta, DP ;

Michels, VV .

JOURNAL OF PEDIATRICS, 1999, 135 (06) :775-781

[9] RED-CELL MEMBRANE-PROTEIN ANOMALIES IN CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE-II (HEMPAS) [J].

BAINES, AJ ;

BANGA, JPS ;

GRATZER, WB ;

LINCH, DC ;

HUEHNS, ER .

BRITISH JOURNAL OF HAEMATOLOGY, 1982, 50 (04) :563-574

[10] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome [J].

Beltran-Valero de Bernabé, D ;

Currier, S ;

Steinbrecher, A ;

Celli, J ;

van Beusekom, E ;

van der Zwaag, B ;

Kayserili, H ;

Merlini, L ;

Chitayat, D ;

Dobyns, WB ;

Cormand, B ;

Lehesjoki, AE ;

Cruces, J ;

Voit, T ;

Walsh, CA ;

van Bokhoven, H ;

Brunner, HG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1033-1043

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