Inherited epithelial transporter disorders--an overview

J Inherit Metab Dis. 2008 Apr;31(2):178-87. doi: 10.1007/s10545-008-0861-6. Epub 2008 Apr 14.


In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human genome project. Since then, the role of many transporter genes in human diseases has been elucidated. In this overview, we focus on inherited disorders of epithelial transporters. In particular, we review genetic defects of the genes encoding glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6 and SLC7 families).

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Transport Disorders, Inborn / genetics*
  • Amino Acid Transport Disorders, Inborn / metabolism
  • Amino Acid Transport Systems / genetics*
  • Amino Acid Transport Systems / metabolism
  • Amino Acids / metabolism
  • Animals
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / metabolism
  • Epithelial Cells / metabolism*
  • Genetic Predisposition to Disease
  • Glucose / metabolism
  • Humans
  • Monosaccharide Transport Proteins / genetics*
  • Monosaccharide Transport Proteins / metabolism
  • Phenotype
  • Sodium-Glucose Transport Proteins / genetics
  • Sodium-Glucose Transport Proteins / metabolism


  • Amino Acid Transport Systems
  • Amino Acids
  • Monosaccharide Transport Proteins
  • Sodium-Glucose Transport Proteins
  • Glucose