Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)

被引：13

作者：

Grünewald, S

De Vos, R

Jaeken, J

机构：

[1] Univ Hosp Gasthuisberg, Ctr Metabol Dis, B-3000 Louvain, Belgium

[2] Univ Essen Gesamthsch, Dept Paediat, Essen, Germany

[3] Univ Hosp Gasthuisberg, Dept Pathol, B-3000 Louvain, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 01期

关键词：

D O I：

10.1023/A:1024023429680

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which were not found in CDG-II. None of the patients showed significant abnormalities in their fibroblasts.

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页码：49 / 54

页数：6

相关论文

共 16 条

[1]

Aebi M, 1999, Glycoconj J, V16, P669

[2] Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) [J].

Barone, R ;

Carchon, H ;

Jansen, E ;

Pavone, L ;

Fiumara, A ;

Bosshard, NU ;

Gitzelmann, R ;

Jaeken, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (02) :167-172

[3] β-hexosaminidase, α-D-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I [J].

Beccari, T ;

Mancuso, F ;

Costanzi, E ;

Tassi, C ;

Barone, R ;

Fiumara, A ;

Orlacchio, A ;

Aisa, MC ;

Orlacchio, A .

CLINICA CHIMICA ACTA, 2000, 302 (1-2) :125-132

[4] Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A) [J].

Bergmann, M ;

Gross, HJ ;

Abdelatty, F ;

Möller, P ;

Jaeken, J ;

Schwartz-Albiez, R .

GLYCOBIOLOGY, 1998, 8 (10) :963-972

[5]

CONRADI N, 1991, ACTA PAEDIATR SC S, V375, P50

[6] Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia [J].

Dupré, T ;

Barnier, A ;

de Lonlay, P ;

Cormier-Daire, V ;

Durand, G ;

Codogno, P ;

Seta, N .

GLYCOBIOLOGY, 2000, 10 (12) :1277-1281

[7] Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId [J].

Hansske, B ;

Thiel, C ;

Lübke, T ;

Hasilik, M ;

Höning, S ;

Peters, V ;

Heidemann, PH ;

Hoffmann, GF ;

Berger, EG ;

von Figura, K ;

Körner, C .

JOURNAL OF CLINICAL INVESTIGATION, 2002, 109 (06) :725-733

[8] Increased expression of β-hexosaminidase α chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I [J].

Ichisaka, S ;

Ohno, K ;

Yuasa, I ;

Nanba, E ;

Sakuraba, H ;

Suzuki, Y .

BRAIN & DEVELOPMENT, 1998, 20 (05) :302-306

[9]

Ishak KG, 2002, PATHOLOGY LIVER

[10] CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II [J].

JAEKEN, J ;

SCHACHTER, H ;

CARCHON, H ;

DECOCK, P ;

CODDEVILLE, B ;

SPIK, G .

ARCHIVES OF DISEASE IN CHILDHOOD, 1994, 71 (02) :123-127