“People from around the country and the world turn to Johan Van Hove, MD, PhD, for advice on a rare metabolic disease known as NKH, which can disrupt the body in devastating and even deadly ways,” according to a spokesman for the University of Colorado Anschutz Medical Campus.
University officials said Van Hove’s research has led to this new disease being called variant NKH.
“This opens the door,” Van Hove said. “I am hopeful that it will eventually lead to major advances in dealing with these diseases.”
NKH, short for non-ketotic hyperglycinaemia, occurs in about one in 60,000 births. It involves the amino acid glycine. When a genetic mutation prevents the body from breaking down excess glycine, it can cause brain problems including severe epilepsy and impaired intellectual development.
Scientists know the symptoms of NKH and also the genes that cause it. But a few patients had symptoms or glycine test results that were similar, but did not quite match up.
Researchers kept the genetic material of several patients who seemed to fall outside the NKH symptoms or who had molecular test results that were outside of the NKH pattern. The patients, some of whom are living, were scattered around the world in the United States, Australia, Lebanon, Canada and other countries.
By looking into the genomes of this group of 11, Van Hove and his colleagues found that eight shared a genetic glitch different than the ones associated with NKH.
In other words, “this is a new disease,” said Van Hove, who practices at Children’s Hospital Colorado.
More testing is likely to reveal more such patients and, Von Hove said, may allow development of a new drug to make life better for patients with variant NKH.
Source: ABC Nwes