Methylmalonic Acidemia (MMA) is a liver condition which affects the body’s ability to break down food and fatty acids. A dietary imbalance or minor virus for these patients may spark a metabolic event which is life threatening. Basically, the disease elevates stress pathways, making the body less capable of responding to stressors. The condition affects one in every 50,000 children born in the United States. It is usually diagnosed through newborn screening.
Researchers at the National Human Genome Research Institute (NHGRI) have just published a new discovery in JCI Insight which may improve the way we treat this condition.
Researchers at NHGRI have found that in mice with MMA, there is a clearly elevated hormone. This hormone is called fibroblast growth factor 21, or FGF21.
Basically, this means that physicians will be able to measure how severely a MMA patient’s liver is damaged simply by measuring their levels of FGF21. It also means that they can more accurately predict how effective different types of therapies may be for patients. These therapies may range from cellular to genomic, and researchers will be able to examine how the body is responding to the treatment by watching FGF21 levels.
This study is also significant because the results can be translated immediately into the clinic. While some studies take years to be utilized, this information can be applied easily for current MMA patients. Ultimately, it should help ensure that each individual receives the proper treatment they need without developing any severe complications.
You can read more about this study and its potential impact for MMA patients here.