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Breathing test that determines a rare disease

Invented a test that determines the presence of methylmalonic acidemia in the exhaled air

Editor: Bolysbek Dana

Author: Akhmetzhanova Inara


Scientists at the National Institutes of Health have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to combined liver and kidney transplants.

MMA is a rare genomic disease that interferes with the body's ability to metabolize certain proteins and fats. By causing the accumulation of toxic substances, it leads to kidney disease, pancreatitis, movement disorders, intellectual disabilities, complications in many organs and, in severe cases, death.

One form of MMA is caused by mutations in the methylmalonyl-CoA mutase gene (MMUT), which encodes the MMUT protein. People with this form of MMA are deficient in the MMUT protein, which plays a key role in metabolism. Protein is involved in processes that help break down food, fats, cholesterol, and amino acids. A healthy body converts propionic acid into energy and carbon dioxide, which is exhaled, but this process is impaired in patients with MMA.

To determine if the MMUT protein was functioning properly, the researchers gave patients a dose of a heavier and less abundant version of carbon - carbon 13 - through a dietary supplement. This method has been shown to be effective by oxidizing the MMUT protein, which helps carbon 13 by binding to inhaled oxygen molecules.

The test is currently only available for use at a clinical center, but the researchers hope that it will soon be widely adopted for therapeutic and research purposes.