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Inborn Errors of Metabolism

  1. Nancy D Leslie,
  2. Gregory A Grabowski

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0002276

eLS

eLS

How to Cite

Leslie, N. D. and Grabowski, G. A. 2001. Inborn Errors of Metabolism. eLS. .

Author Information

  1. Children's Hospital Research Foundation, Cincinnati, Ohio, USA

Publication History

  1. Published Online: 19 APR 2001

Abstract

The inborn errors of metabolism are a heterogeneous group of conditions that result from the defective activity of an enzyme or enzymes important to the functioning of a cell. Such enzymes have roles in the synthesis, conversion or degradation of essential chemicals in the body's cells, tissues and fluids.

Keywords:

  • intermediary metabolism;
  • heterogeneity;
  • metabolic complementation;
  • lysosomal enzymes