Metabolism, infection and immunity in inborn errors of metabolism

National Human Genome Research Institute

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Abstract

Summary: My translational research program focuses on immunometabolism using IEM as a model system. Patients with inborn errors of metabolism experience life threatening episodes of acute metabolic instability and organ dysfunction brought about by infection termed metabolic decompensation. Our goal is to understand how immune activation during infection contributes to this pathophysiology. This line of research also has implications for organ dysfunction during sepsis, a common problem in the intensive care unit. Since infection is important in patients with IEM, we also wish to understand the role of intermediary metabolism in immune cell function. Many enzymes involved in intermediary metabolism are also expressed in lymphocytes, and have associated IEM. These studies will not only provide insight into immune function in IEM patients, but also help define the role of metabolic enzymes in normal lymphocyte function.