Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

J Inherit Metab Dis. 2011 Aug;34(4):853-8. doi: 10.1007/s10545-011-9299-3. Epub 2011 Mar 8.

Abstract

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.

Publication types

  • Review

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / classification*
  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Sequence
  • Congenital Disorders of Glycosylation / classification*
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / etiology
  • Congenital Disorders of Glycosylation / genetics
  • Diagnosis, Differential
  • Glycosylation
  • Humans
  • Models, Biological
  • Terminology as Topic