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: This email address is being protected from spambots. You need JavaScript enabled to view it..

From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

Read More

In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

Read More

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

Read More


As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates