Featured Research

from universities, journals, and other organizations

New Insight Into Childhood Metabolic Disease

Date:
October 15, 2007
Source:
Journal of Clinical Investigation
Summary:
Glutaric acidemia type I is an inherited disorder similar to Huntington disease. In most, but not all, affected children, a period of normal development is followed by an irreversible brain injury triggered by a nonspecific illness. New research using a mouse model of GA-I has provided insight into the mechanisms underlying injury and age-dependent susceptibility to the disease and suggested a way to monitor children with the disease.

Glutaric acidemia type I (GA-I) is an inherited disorder similar to Huntington disease. Individuals with GA-I are unable to breakdown completely the amino acids lysine and tryptophan and the intermediates of lysine and tryptophan breakdown accumulate in the brain.

In most, but not all, affected children, a period of normal development is followed by an irreversible brain injury triggered by a nonspecific illness. If children with GA-I reach 5 years of age without suffering brain injury they usually never show symptoms of the disease.

New research using a mouse model of GA-I (Gcdh--/-- mice) by William Zinnanti and colleagues at Penn State, Hershey, has provided insight into the mechanisms underlying injury and age-dependent susceptibility to the disease and suggested a way to monitor children with the disease.

Gcdh--/-- mice do not develop disease if lysine and tryptophan are excluded from their diet. Exposure to lysine in the diet caused brain damage in both young and adult mice, but the extent of the damage was much greater in the young mice.

This was shown to be because lysine uptake is enhanced in the immature brain compared with the adult brain and so more intermediates of lysine degradation accumulated, thereby increasing the susceptibility to brain damage.

Treating young Gcdh--/-- mice with homoarginine, to limit brain uptake of lysine, and glucose, to limit lysine degradation, substantially decreased brain damage caused by exposure to lysine in the diet.

Furthermore, brain injury was preceded by decreases in glutamate and GABA in the brain that could be monitored by proton nuclear magnetic resonance spectroscopy, providing hope that a way of monitoring children with GA-I to predict the onset of brain injury might be developed.

Article: Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Cite This Page:

Journal of Clinical Investigation. "New Insight Into Childhood Metabolic Disease." ScienceDaily. ScienceDaily, 15 October 2007. <www.sciencedaily.com/releases/2007/10/071011180857.htm>.
Journal of Clinical Investigation. (2007, October 15). New Insight Into Childhood Metabolic Disease. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2007/10/071011180857.htm
Journal of Clinical Investigation. "New Insight Into Childhood Metabolic Disease." ScienceDaily. www.sciencedaily.com/releases/2007/10/071011180857.htm (accessed October 21, 2014).

Share This



More Mind & Brain News

Tuesday, October 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Your Birth Season Might Determine Your Temperament

Your Birth Season Might Determine Your Temperament

Newsy (Oct. 20, 2014) A new study says the season you're born in can determine your temperament — and one season has a surprising outcome. Video provided by Newsy
Powered by NewsLook.com
Court Ruling Means Kids' Online Activity Could Be On Parents

Court Ruling Means Kids' Online Activity Could Be On Parents

Newsy (Oct. 17, 2014) In a ruling attorneys for both sides agreed was a first of its kind, a Georgia appeals court said parents can be held liable for what kids put online. Video provided by Newsy
Powered by NewsLook.com
The Best Foods To Boost Your Mood

The Best Foods To Boost Your Mood

Buzz60 (Oct. 17, 2014) Feeling down? Reach for the refrigerator, not the medicine cabinet! TC Newman (@PurpleTCNewman) shares some of the best foods to boost your mood. Video provided by Buzz60
Powered by NewsLook.com
You Can Get Addicted To Google Glass, Apparently

You Can Get Addicted To Google Glass, Apparently

Newsy (Oct. 15, 2014) Researchers claim they’ve diagnosed the first example of the disorder in a 31-year-old U.S. Navy serviceman. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins