A variant of NKH is uncovered

December 12, 2013

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. 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."

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.

NKH, short for non-ketotic hyperglycinaemia, occurs in about one in 60,000 births. It involves the , 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.

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.

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 with variant NKH.

Explore further: Peering into genetic defects, scientists discover a new metabolic disease

Related Stories

Peering into genetic defects, scientists discover a new metabolic disease

September 5, 2013
An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.

Epigenetic markers shows promise in Alzheimer's disease

October 7, 2013
Increasing evidence suggests that epigenetic regulation is associated with the pathogenesis of Alzheimer's disease (AD) and targeting it may one day lead to novel diagnostic and therapeutic strategies, research suggests.

Web-based training modules make surgical-equipment training accessible

October 1, 2013
While training to become a surgeon, a physician acquires many skills. Nevertheless, when it comes to the procedures involved in learning to handle equipment in laparoscopic surgery (keyhole surgery in the abdominal cavity), ...

Meat, egg and dairy nutrient essential for brain development

November 25, 2013
Asparagine, found in foods such as meat, eggs, and dairy products, was until now considered non-essential because it is produced naturally by the body. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine ...

Scientists investigate inherited causes of autism

February 4, 2013
Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, ...

Stroke-causing mutant gene identified by scientists—along with a potential treatment

September 4, 2013
(Medical Xpress)—A genetic mutation that can lead to haemorrhagic stroke has been identified by scientists – along with a drug to potentially treat it.

Recommended for you

A rogue gene is causing seizures in babies—here's how scientists wants to stop it

July 26, 2017
Two rare diseases caused by a malfunctioning gene that triggers seizures or involuntary movements in children as early as a few days old have left scientists searching for answers and better treatment options.

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.