NKH, Medical Mysteries and Solutions

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.

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. NKH can disrupt disrupt the body in devastating and even deadly ways. Now, Van Hove, a University of Colorado medical school professor, has identified a new disease related to NKH, a finding that resolves previously baffling cases including the death of a Colorado girl.

"This opens the door," Van Hove said. "I am hopeful that it will eventually lead to major advances in dealing with these diseases."

Personalized Genetics: Unraveling the Secret Code to Good Health.
A path breaking research by American scientists in the area of personalized genetics will soon enable people with the esoteric knowledge of their distinct biological make-up

The findings were published today in the journal Brain. The research team led by Van Hove, including scientists from the United States and five other countries, calls the new disease variant NKH.

The discovery is part of the new wave of personalized medicine being pioneered at CU and other institutions, in which researchers and doctors delve into the human genome to determine what is causing disease and use the information to try to fix the problem.

Van Hove has been on the trail of NKH for 22 years. Much of the funding for his research comes from families and others who have encountered the disease.

Neuroscience Method of Optogenetics is Comparable to Electrical Stimulation, Says Research
Optogenetics is a technique that uses pulses of visible light to genetically alter brain cells to be excited or silenced.

NKH, short for non-ketotic hyperglycinaemia, occurs in about one in 60,000 births. It involves the amino acid glycine, a building block for many functions including movement and brain activity. 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, when they malfunction, cause it. But a few patients worldwide had symptoms or glycine test results that were similar but did not quite match up.

Significant role of genetics in drug abuse, Norwegian study
A Norwegian study has discovered a connection between genetic factors and drug abuse saying that genetic tendencies play a significant role in the use of drugs.

One of those patients was a Colorado girl. She seemed fine until she was six months old. Then she began to lose muscle tone. She lost some control of her head movements. Seizures came next, along with a range of muscle twitches. By eight she lost her ability to walk. At the end, she spent most of her time curled in the fetal position.

Several years ago, at age 11, she died.

Risk for Autism Increased by Combination of Air Pollution and Genetics
Newly published research says that exposure to air pollution appears to increase the risk for autism among people who carry a genetic disposition for the disorder.

Researchers kept her genetic material, as they did with other 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 globe, in Australia, Lebanon, Canada and other countries as well as in the United States.

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, he said, may allow development of a new drug to make life better for patients with variant NKH.

Source-Eurekalert