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Metabolism, Infection and Immunity in Inborn Errors of Metabolism PDF Print E-mail
Written by Peter J. McGuire, MS, MD National Human Genome Research Institute (NHGRI) National Institutes of Health, Summary by Karen Dolins   

Dr. McGuire is conducting research at the National Institutes of Health (NIH) on the interaction between the immune system and metabolism in individuals with Inborn Errors of Metabolism (IEM). He notes that decompensation resulting from infection is more severe than decompensation due to improper diet, and believes that the way in which the immune system and IEMs impact each other is largely responsible.

Our immune system protects us against bacteria, viruses, fungi, parasites, cancer, and pollution. We have multiple lines of defense. These include our skin, tonsils, lymph nodes, and special cells called inflammatory cytokines which are soluble mediators made by immune cells that allow communication between cells. These inflammatory cytokines are responsible for the fever and loss of appetite that can accompany infection.

Infection is harmful for individuals with MSUD and other IEM as it increases energy (calorie) requirements. Breakdown of muscle protein is increased as the body tries to generate this extra energy, releasing branched-chain amino acids which can then cross over the blood brain barrier and enter the brain itself.

Dr. McGuire’s research subjects have had other IEM. He is now looking to enroll individuals with MSUD so that he can study the impact of this metabolic disease on the immune system in hopes of improving the understanding and treatment for metabolic crises. If you are interested, please contact him at: ministudy@nih.gov.



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Last Updated on Friday, September 23 2016 09:18
 

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