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Breathe It Out

A breath test may be able to determine how severe patients' methylmalonic acidemia disease is and whether they are responding to treatments, according to FierceBiotech.

It adds that methylmalonic acidemia that affects about 1 in 80,000 newborns, can lead to the buildup of proteins and fats by affecting their metabolism, and cause kidney, liver, and other disease. Methylmalonic acidemia is a genomic disorder that can be caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene.

As they report in Genetics in Medicine, researchers led by National Human Genome Research Institute's Charles Venditti are developing a non-invasive test that gauges disease severity by measuring patients' metabolism though the levels of 1-13C-propionate in their breath. The researchers administered their test to 57 methylmalonic acidemia patients and 16 healthy volunteers to find patients with severe subtypes of the disease had low propionate oxidation levels, while those with less severe disease or who had been treated with liver transplants had near-normal propionate oxidation levels.

"Our next goal is to see if this specialized breath test can detect increase in carbon 13 propionate oxidation after gene, mRNA, or genome editing therapies," Venditti says in a statement. "This way, we can also use this test to measure how effective these treatments are in restoring MMUT function."