Understanding human glycosylation disorders: biochemistry leads the charge

J Biol Chem. 2013 Mar 8;288(10):6936-45. doi: 10.1074/jbc.R112.429274. Epub 2013 Jan 17.


Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological mechanisms, and possible therapies will hinge on biochemical analysis of patient-derived materials and animal models. Biochemical diagnostic markers and readouts offer a physiological context to confirm candidate genes. Recent discoveries suggest novel perspectives for textbook biochemistry and novel research opportunities. Basic science and patients are the immediate beneficiaries of this bidirectional collaboration.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / metabolism
  • Exome / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Glycosylphosphatidylinositols / metabolism
  • Humans
  • Hypoglycemia / genetics
  • Liver / abnormalities
  • Liver / metabolism
  • Mannosyltransferases / genetics
  • Mutation*
  • Sequence Analysis, DNA / methods


  • Glycosylphosphatidylinositols
  • Mannosyltransferases
  • PIGM protein, human