Sialic acid storage disease and related disorders

Genet Test. Summer 2003;7(2):113-21. doi: 10.1089/109065703322146795.


This paper gives an overview of the two sialic acid storage disorders, Salla disease and infantile sialic acid storage disease, and the related disorders cystinosis, sialuria, sialidosis, and galactosialidosis. Sialic acid storage disease and cystinosis are models for a deficient lysosomal transport of monosaccharides and amino acids, respectively. Several gene mutations leading to the production of the faulty membrane proteins sialin and cystinosin have been identified in recent years. Knowledge of the underlying pathophysiology is a prerequisite for future research projects, which will focus on the expression of the disease genes in living systems and the physical characterization of these proteins by X-ray crystallography and nuclear magnetic resonance spectroscopy.

Publication types

  • Review

MeSH terms

  • Amino Acid Transport Systems, Neutral
  • Chromosomes, Human, Pair 6 / genetics
  • Cystinosis / genetics
  • Cystinosis / metabolism
  • Female
  • Glycoproteins / genetics
  • Glycoproteins / metabolism
  • Humans
  • Infant
  • Lysosomes / metabolism
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Membrane Transport Proteins
  • Mucolipidoses / genetics
  • Mucolipidoses / metabolism
  • N-Acetylneuraminic Acid / metabolism
  • Organic Anion Transporters / genetics
  • Organic Anion Transporters / metabolism
  • Sialic Acid Storage Disease / genetics*
  • Sialic Acid Storage Disease / metabolism
  • Symporters / genetics
  • Symporters / metabolism


  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Organic Anion Transporters
  • Symporters
  • sialic acid transport proteins
  • N-Acetylneuraminic Acid