Standard Article

Inherited Diseases of Intermediary Metabolism: Molecular Basis

  1. Gregory A Grabowski

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0001403

eLS

eLS

How to Cite

Grabowski, G. A. 2001. Inherited Diseases of Intermediary Metabolism: Molecular Basis. eLS. .

Author Information

  1. Children's Hospital Medical Center, Cincinnati, Ohio, USA

Publication History

  1. Published Online: 19 APR 2001

Abstract

Inherited abnormalities in the complex pathways of carbohydrate, amino and organic acids and lipids lead to the inborn errors of metabolism. A variety of genetic aberrations lead to single or multiple protein/enzyme defects at the translational, post-translational and organelle targeting levels that lead to the disease biochemistry and clinical manifestations.

Keywords:

  • intermediary metabolism;
  • genetics;
  • lysosome;
  • gene therapy