Inherited Diseases of Intermediary Metabolism: Molecular Basis
Published Online: 19 APR 2001
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Grabowski, G. A. 2001. Inherited Diseases of Intermediary Metabolism: Molecular Basis. eLS. .
- Published Online: 19 APR 2001
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.
- intermediary metabolism;
- gene therapy