Inborn Errors of Metabolism : NIDDK

Inborn Errors of Metabolism

The Inborn Errors of Metabolism Program encompasses research in the diagnosis, pathophysiology and treatment of genetic metabolic diseases. Specific areas of support include:

  • Studies of etiology, pathogenesis, prevention, diagnosis, pathophysiology, and treatment of these diseases
  • Characterization of the genes, genetic defects, and regulatory alterations that are the underlying causes of these diseases
  • Identification of genetic modifiers that alter the phenotype of these diseases
  • Studies of the mutant enzyme and its effect on the structure and function of the protein
  • Development of animal models for genetic diseases
  • Development of technologies and methods for newborn screening¬†
  • Development and testing of dietary, pharmacologic, and enzyme replacement therapies
  • Development of stem cell transplantation, both prenatally and postnatally, as a treatment for metabolic diseases.

For further information, contact Dr. Catherine McKeon,  Senior Advisor for Genetic Research.

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Page last updated: January 20, 2009

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