How a mutation in the SKD3 enzyme can cause MGCA7 disease

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as 3-methylglutaconic aciduria (MGCA7). MGCA7 is an inborn error of metabolism associated with variable neurologic deficits and an abnormally low number of immune cells called neutrophils in the blood.


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Source: Phys.org