Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms

Molecular Diagnosis and Therapy

Volumn 11, Issue 5, 2007, Pages 303-311

  Babovic Vuksanovic, Dusica ^a   O'Brien, John F ^a  

^a MAYO CLINIC   (United States)

Author keywords

Congenital disorders; Diagnostics; Proteomics

Indexed keywords

MANNOSE; OLIGOSACCHARIDE; SIALIDASE; TRANSFERRIN;

ALCOHOLISM; CARBOHYDRATE SYNTHESIS; CLINICAL FEATURE; CLINICAL TRIAL; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; DIAGNOSTIC PROCEDURE; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC DISORDER; GLYCOSYLATION; HIGH THROUGHPUT SCREENING; HUMAN; ISOELECTRIC FOCUSING; LABORATORY DIAGNOSIS; MASS SPECTROMETRY; METHODOLOGY; NONHUMAN; PATHOPHYSIOLOGY; PHOSPHOMANNOMUTASE DEFICIENCY; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; PROTEOMICS; REVIEW;

EID: 35548993300     PISSN: 11771062     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03256251     Document Type: Review

References (39)

1. Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003 Jun; 162 (6): 359-79
2. Aebi M, Helenius A, Schenk B, et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 1999 Nov; 16 (11): 669-71
3. Jaeken JM, Vanderschueren-Lodeweyckx P, Casaer L, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 1980; 14: 179
4. Jaeken J, van Eijk HG, van der Heul C, et al. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984 Dec 29; 144 (2-3): 245-7
5. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, et al. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 1999 Dec; 135 (6): 775-81
6. Stibler H, Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 1990 Jan; 65 (1): 107-11
7. O'Brien JF. Methods for detection of carbohydrate-deficient glycoprotein syndromes. Semin Pediatr Neurol 2005 Sep; 12 (3): 159-62
8. Kranz C, Denecke J, Lehrman MA, et al. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest 2001 Dec; 108 (11): 1613-9
9. Arndt T. Carbohydrate-deficient transferrin as a marker of chronic alcohol abuse: a critical review of preanalysis, analysis, and interpretation. Clin Chem 2001 Jan; 47 (1): 13-27
10. Bean P, Peter JB. Allelic D variants of transferrin in evaluation of alcohol abuse: differential diagnosis by isoelectric focusing-immunoblotting- laser densitometry. Clin Chem 1994 Nov; 40 (11 Pt 1): 2078-83
11. Fenn JB, Mann M, Meng CK, et al. Electrospray ionization for mass spectrometry of large biomolecules. Science 1989 Oct 6; 246 (4926): 64-71
12. Wada Y, Nishikawa A, Okamoto N, et al. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem Biophys Res Commun 1992 Dec 15; 189 (2): 832-6
13. Lacey JM, Bergen HR, Magera MJ, et al. Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem 2001 Mar; 47 (3): 513-8
14. Bergen 3rd HR, Zeldenrust SR, Butz ML, et al. Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem 2004 Sep; 50 (9): 1544-52
15. Hahn SH, Minnich SJ, O'Brien JF. Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 2006 Feb; 29 (1): 235-7
16. Mills K, Mills P, Jackson M, et al. Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. Proteomics 2006 Apr; 6 (7): 2295-304
17. Jaeken J, Matthijs G, Carchon H, et al. Defects of N-glycan synthesis. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: The McGraw-Hill Companies, 2001: 1601-22
18. Korner C, Knauer R, Stephani U, et al. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP- dolichyl mannosyltransferase. Embo J 1999 Dec 1; 18 (23): 6816-22
19. Imbach T, Schenk B, Schollen E, et al. Deficiency of dolichol-phosphate- mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest 2000 Jan; 105 (2): 233-9
20. Eklund EA, Newell JW, Sun L, et al. Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab 2005 Jan; 84 (1): 25-31
21. Thiel C, Schwarz M, Peng J, et al. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolicholdouble linked oligosaccharide biosynthesis. J Biol Chem 2003 Jun 20; 278 (25): 22498-505
22. Wu X, Rush JS, Karaoglu D, et al. Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat 2003 Aug; 22 (2): 144-50
23. Schwarz M, Thiel C, Lubbehusen J, et al. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet 2004 Mar; 74 (3): 472-81
24. Frank CG, Grubenmann CE, Eyaid W, et al. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 2004 Jul; 75 (1): 146-50
25. Gao N. Fluorophore-assisted carbohydrate electrophoresis: a sensitive and accurate method for the direct analysis of dolichol pyrophosphate-linked oligosaccharides in cell cultures and tissues. Methods 2005 Apr; 35 (4): 323-7
26. Papac DI, Briggs JB, Chin ET, et al. A high-throughput microscale method to release N-linked oligosaccharides from glycoproteins for matrix-assisted laser desorption/ionization time-of-flight mass spectrometric analysis. Glycobiology 1998 May; 8 (5): 445-54
27. Sagi D, Kienz P, Denecke J, et al. Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: application to congenital disorders of glycosylation. Proteomics 2005 Jul; 5 (10): 2689-701
28. Wada Y. Mass spectrometry for congenital disorders of glycosylation, CDG. J Chromatogr B Analyt Technol Biomed Life Sci 2006 Jun 21; 838 (1): 3-8
29. Helenius A, Aebi M. Roles of N-linked glycans in the endoplasmic reticulum. Annu Rev Biochem 2004; 73: 1019-49
30. Sturiale L, Barone R, Fiumara A, et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005 Dec; 15 (12): 1268-76
31. Miura Y, Tay SK, Aw MM, et al. Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. J Pediatr 2005 Dec; 147 (6): 851-3
32. Allen JP, Anton R. Biomarkers as aids to identification of relapse in alcoholic patients. Recent Dev Alcohol 2003; 16: 25-38
33. Kawahara H, Matsuda Y, Tsuchishima M, et al. Effects of ethanol and acetaldehyde on the maturation of hepatic secretory glycoproteins. Alcohol Alcohol Suppl 1993; 1A: 29-35
34. Harasymiw J, Bean P. The combined use of the early detection of alcohol consumption (EDAC) test and carbohydrate-deficient transferrin to identify heavy drinking behaviour in males. Alcohol 2001 Jul-Aug; 36 (4): 349-53
35. Lanz C, Marti U, Thormann W. Capillary zone electrophoresis with a dynamic double coating for analysis of carbohydrate-deficient transferrin in human serum: precision performance and pattern recognition. J Chromatogr A 2003 Sep 26; 1013 (1-2): 131-47
36. Jeppsson JO, Arndt T, Schellenberg F, et al. Toward standardization of carbohyrate-deficient transferrin (CDT) measurements: I. Analyte definition and proposal of a candidate reference method. Clin Chem Lab Med 2007; 45 (4): 558-62
37. Rush JS, Panneerselvam K, Waechter CJ, et al. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with congenital disorders of glycosylation (CDG). Glycobiology 2000 Aug; 10 (8): 829-35
38. Niehues R, Hasilik M, Alton G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998 Apr 1; 101 (7): 1414-20
39. Westphal V, Srikrishna G, Freeze HH. Congenital disorders of glycosylation: have you encountered them? Genet Med 2000 Nov-Dec; 2 (6): 329-37