Current NHGRI Clinical Studies

The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism

Study Overview

Infections play a significant role in precipitating life-threatening acute metabolic crises in patients with inborn errors of metabolism (IEM). At the present time, the medical community does not completely appreciate the status of the immune system in patients with IEM. Dietary complications or even the underlying enzyme deficiency can affect the immune system and its ability to fight off infection.

We hope to recruit interested IEM patients to study their immunologic status, including whether or not they have developed immunity to childhood vaccinations.

To learn more about our study, please explore the MINI Study Web pages. Alternately, please download our study brochure: (The NIH MINI StudyPDF file)

Principal Investigator

Peter J. McGuire, M.S., M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health

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Last Updated: August 7, 2014