Seminars in Pediatric Neurology
Volume 12, Issue 3 , Pages 144-151 , September 2005

Metabolic Mimics: The Disorders of N-Linked Glycosylation

  • Marc C. Patterson

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Marc C. Patterson, MD, FRACP, Division of Pediatric Neurology, Columbia University Medical Center, Harkness Pavilion, HP-540, 180 Fort Washington Avenue, New York, NY 10032.

References 

  1. Aebi M , Hennet T . Congenital disorders of glycosylation (genetic model systems lead the way) . Trends Cell Biol . 2001;11:136–141
  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;16:669–671
  3. Wu X , Steet RA , Bohorov O , et al.   Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder . Nat Med . 2004;10:518–523
  4. Spaapen LJ , Bakker JA , van der Meer SB , et al.   Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder . J Inherit Metab Dis . 2005;28:707–714
  5. Hagberg BA , Blennow G , Kristiansson B , et al.   Carbohydrate-deficient glycoprotein syndromes (peculiar group of new disorders) . Pediatr Neurol . 1993;9:255–262
  6. Mader I , Dobler-Neumann M , Kuker W , et al.   Congenital disorder of glycosylation type Ia (Benign clinical course in a new genetic variant) . Childs Nerv Syst . 2002;18:77–80
  7. Miossec-Chauvet E , Mikaeloff Y , Heron D , et al.   Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia . Neuropediatrics . 2003;34:1–6
  8. Schollen E , Dorland L , de Koning TJ , et al.   Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) . Hum Mutat . 2000;16:247–252
  9. Assmann B , Hackler R , Peters V , et al.   A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations . Neuropediatrics . 2001;32:313–318
  10. Sun L , Eklund EA , Van Hove JL , et al.   Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient . Am J Med Genet A . 2005;137:22–26
  11. 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;18:6816–6822
  12. Sun L , Eklund EA , Chung WK , et al.   Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia . J Clin Endocrinol Metab . 2005;90:4371–4375
  13. Kim S , Westphal V , Srikrishna G , et al.   Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) . J Clin Invest . 2000;105:191–198
  14. Schenk B , Imbach T , Frank CG , et al.   MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If . J Clin Invest . 2001;108:1687–1695
  15. Chantret I , Dupre T , Delenda C , et al.   Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose (Man7GlcNAc2-PP-dolichyl mannosyltransferase) . J Biol Chem . 2002;277:25815–25822
  16. 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;84:25–31
  17. Chantret I , Dancourt J , Dupre T , et al.   A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation . J Biol Chem . 2003;278:9962–9971
  18. Schollen E , Frank CG , Keldermans L , et al.   Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) . J Med Genet . 2004;41:550–556
  19. 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 dolichol-linked oligosaccharide biosynthesis . J Biol Chem . 2003;278:22498–22505
  20. 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;22:144–150
  21. Grubenmann CE , Frank CG , Hulsmeier AJ , et al.   Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik . Hum Mol Genet . 2004;13:535–542
  22. 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;75:146–150
  23. Weinstein M , Schollen E , Matthijs G , et al.   CDG-IL (An infant with a novel mutation in the ALG9 gene and additional phenotypic features) . Am J Med Genet A . 2005;136:194–197
  24. Cormier-Daire V , Amiel J , Vuillaumier-Barrot S , et al.   Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism . J Med Genet . 2000;37:875–877
  25. De Praeter CM , Gerwig GJ , Bause E , et al.   A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency . Am J Hum Genet . 2000;66:1744–1756
  26. Lubke T , Marquardt T , Etzioni A , et al.   Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency . Nat Genet . 2001;28:73–76
  27. Peters V , Penzien JM , Reiter G , et al.   Congenital disorder of glycosylation IId (CDG-IId)—A new entity (Clinical presentation with Dandy-Walker malformation and myopathy) . Neuropediatrics . 2002;33:27–32
  28. Willig TB , Breton-Gorius J , Elbim C , et al.   Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes—A new syndrome? . Blood . 2001;97:826–828
  29. Martinez-Duncker I , Dupre T , Piller V , et al.   Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter . Blood . 2005;105:2671–2676
  30. Marquardt T , Denecke J . Congenital disorders of glycosylation (review of their molecular bases, clinical presentations and specific therapies) . Eur J Pediatr . 2003;162:359–379
  31. Jaeken J , Matthijs G , Carchon H . Defects of N-glycan synthesis . In:  Scriver CS ,  Beaudet AL ,  Sly WS editor. The Metabolic and Molecular Bases of Inherited Disease (ed 8) . New York, NY: McGraw-Hill; 2001;p. 1601–1622
  32. Grunewald S , De Vos R , Jaeken J . Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG) . J Inherit Metab Dis . 2003;26:49–54
  33. Patterson MC . Screening for “prelysosomal disorders” (Carbohydrate-deficient glycoprotein syndromes) . J Child Neurol . 1999;14(suppl):S16–S22
  34. Lacey JM , Bergen HR , Magera MJ , et al.   Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry . Clin Chem . 2001;47:513–518
  35. Jaeken J , Carchon H . Congenital disorders of glycosylation (the rapidly growing tip of the iceberg) . Curr Opin Neurol . 2001;14:811–815
  36. Westphal V , Kjaergaard S , Schollen E , et al.   A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency . Hum Mol Genet . 2002;11:599–604
  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;10:829–835
  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;101:1414–1420
  39. Eklund EA , Merbouh N , Ichikawa M , et al.   Hydrophobic Man-1-P derivatives correct abnormal glycosylation in type I congenital disorder of glycosylation fibroblasts . Glycobiology . 2005;15:1084–1093

PII: S1071-9091(05)00075-6

doi: 10.1016/j.spen.2005.10.002

Seminars in Pediatric Neurology
Volume 12, Issue 3 , Pages 144-151 , September 2005

Article Tools