Congenital Disorders of Glycosylation CDG

AFM atomic force microscopy BSA bovine serum albumin CDG congenital disorder of glycosylation CMP c)hidine monophosphate,... 

Liibke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (2001) Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28 73-76... 

Wada Y (2006) Mass spectrometry for congenital disorder of glycosylation, CDG. J Chro-matogr Analyt Technol Biomed Life Sci 838 3-8... 

Qualitative modifications in the glycosylation of this protein occur after prolonged heavy alcohol consumption and also in patients with rare congenital disorders of glycosylation (CDG). Therefore, measurement of transferrin microheterogeneity has been used both as a biomarker for detection and follow-up of alcohol abuse [known as carbohydrate-deficient transferrin (CDT)]" and for diagnosis of CDG. This chapter will review the microheterogeneity of human transferrin and the methods used for the measurement of transferrin... 

Figure 6.1 Structural illustration of the major normal glycoforms of human serum transferrin and those being influenced by chronic alcohol abuse (carbohydrate-deficient transferrin CDT) and in congenital disorders of glycosylation (CDG)...

V. Peters, J.M. Penzien, G. Reiter, C. Korner, R. Hackler, B. Assmann, J. Fang, J.R. Schaefer, G.F. Hoffmann and P.H. Heidemann, Congenital disorder of glycosylation lid (CDG-IId) - a new entity clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics, 33, 27-32 (2002). 

Formation of the aminobenzamide derivative facilitated the structural determination of a monosialylated biantennary glycan found to be present on the serum transferrin of a patient with a new type of congenital disorder of glycosylation, CDG Ilh. In this case, the patient sample and appropriate standards were analyzed by negative ion nanospray tandem MS on a quadrupole orthogonal TOF instrument, and the single siahc acid residue could be clearly located at the terminus of the 6-arm (55). 

Congenital Disorders of Glycosylation Congenital disorders of glycosyla-tion (CDG) (previously known as carbohydrate-deficient glycoprotein syndromes) are inherited... 

Matthijs G, Schollen E, Bjursell C, et al. Mutations update Mutations in PMM2 that cause congenital disorders of glycosylation, type la (CDG-Ia). Hum Mutat 2000 16 386-394. 

Kim S, Westphal V, Srikrishna G, et al. Dolichol phosphate mannose synthase (DPMI) mutations define congenital disorder of glycosylation le (CDG-Ie). / Clin Invest 2000 105 191-198. 

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