About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

NKH, Medical Mysteries and Solutions

by Rukmani Krishna on December 16, 2013 at 11:50 PM
Font : A-A+

 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. 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."

Advertisement

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.
Advertisement

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 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.

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 patients with variant NKH.

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
First Dose of COVID-19 Vaccines May Improve Mental Health
Printed Temperature Sensors help with Continuous Temperature Monitoring
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.


Recommended Reading
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 ....
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 ......

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use