Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)
Tóm tắt
Summary: 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.
Tài liệu tham khảo
Aebi M, Helenius A, Schenk B, et al (1999) Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 16: 669-671.
Barone R, Carchon H, Jansen E, et al (1998) Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency). J Inherit Metab Dis 21: 167-172.
Beccari T, Mancuso F, Costanzi E, et al (2000) b-Hexosaminidase, a-D-mannosidase, and b-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I. Clin Chim Acta 302: 125-132.
Bergmann M, Gross HJ, Abdelatty F, et al (1998) Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A). Glycobiology 8: 963-972.
Conradi N, De Vos R, Jaeken J, et al (1991) Liver pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375: 50-54.
Dupre T, Barnier A, de Lonlay P, et al (2000) Defect in N-glycosylation of proteins is tissue-dependent in congenital disorder of glycosylation la. Glycobiology 10: 1277-1281.
Hansske B, Thiel C, Lubke T, et al (2002) Deficiency of UDP-galactose:N-acetylglucosamine b-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest 109: 725-733.
Ichisaka S, Ohno K, Yuasa I, et al (1998) Increased expression of b-hexosaminidase a chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I. Brain Dev 20: 302-306.
Ishak KL, Sharp HL, Schwarzenberg SJ (2002) Metabolic errors and liver disease. In MacSween RNH, Burt A, Portmann B, et al, eds. Pathology of the Liver, 4th edn. Edinburgh: Churchill Livingstone.
Jaeken J, Matthijs G (2001) Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet 2: 129-151.
Jaeken J, De Cock P, Stibler H, et al (1993) Carbohydrate-deficient glycoprotein syndrome type II. J Inherit Metab Dis 16, 1041.
Jaeken J, Schachter H, Carchon H, et al (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetylglucosaminyltransferase II. Arch Dis Child 71: 123-127.
Keir G, Winchester BG, Clayton P (1999) Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem 36: 20-36.
Marquardt T, Ullrich K, Zimmer P, et al (1995) Carbohydrate-deficient glycoprotein syndrome (CDGS)Mglycosylation, folding and intracellular transport of newly synthesized glycoproteins. Eur J Cell Biol 66: 268-273.
Patterson MC (1999) Screening for 'prelysosomal disorders': carbohydrate-deficient glycoprotein syndromes. J Child Neurol 14(supplement 1): S16-22.
Phillips MJ, Poucell S, Patterson J, et al (1987) The Liver. An Atlas and Text of Ultrastructural Pathology. New York: Raven Press.