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 July 24, 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 July 24, 2014).

Share This




More Mind & Brain News

Thursday, July 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Newsy (July 23, 2014) An 8-year-old boy helped his younger brother, who has a rare genetic condition that's confined him to a wheelchair, finish a triathlon. Video provided by Newsy
Powered by NewsLook.com
Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Newsy (July 22, 2014) The 83 new genetic markers could open dozens of new avenues for schizophrenia treatment research. Video provided by Newsy
Powered by NewsLook.com
Why Do People Believe We Only Use 10 Percent Of Our Brains?

Why Do People Believe We Only Use 10 Percent Of Our Brains?

Newsy (July 22, 2014) The new sci-fi thriller "Lucy" is making people question whether we really use all our brainpower. But, as scientists have insisted for years, we do. Video provided by Newsy
Powered by NewsLook.com
Do Obese Women Have 'Food Learning Impairment'?

Do Obese Women Have 'Food Learning Impairment'?

Newsy (July 18, 2014) Yale researchers tested 135 men and women, and it was only obese women who were deemed to have "impaired associative learning." 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:
from the past week

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