HOME >> MEDICINE >> NEWS
Once-fatal metabolic disorders treatable, says Stanford/Packard researcher

STANFORD, Calif. -- People with a class of rare genetic disorders that often lead to brain damage, coma and death can be successfully treated with drugs, says a researcher at the Stanford University School of Medicine and Lucile Packard Children's Hospital.

The researchers found in their unprecedented 25-year study that prompt diagnosis coupled with a rapid start of intravenous drug therapy significantly improves the survival rates of people with the condition, called urea cycle disorders. The condition affects proteins in the liver that are necessary to process the by-products of protein metabolism.

"Historically, the prognosis for patients with urea cycle disorders has been universally poor," said Gregory Enns, MD, director of the biochemical genetics program at Packard Children's. "To now be able to talk about the potential for normal outcomes is pretty remarkable."

Enns, who is also associate professor of pediatrics at Stanford's School of Medicine, collaborated with researchers from the Johns Hopkins School of Medicine, the University of Minnesota, Thomas Jefferson University and the Medical College of Wisconsin on the study, which will be published in the May 31 issue of The New England Journal of Medicine. Enns is the lead author of the study, and Hopkins researcher Ada Hamosh, MD, is the senior author.

Urea cycle disorders affect about one in every 8,200 people, but the diagnosis is often missed or delayed. The study took 25 years to accumulate enough patients to evaluate the drug treatment.

People with urea cycle disorders are unable to convert nitrogen-rich ammonia, a normal by-product of protein metabolism, into urea that is excreted by the body as urine. Mutations in several different proteins can short-circuit the urea cycle, which occurs in the liver, but the result is the same: escalating levels of blood nitrogen cause irreversi
'"/>

Contact: Krista Conger
kristac@stanford.edu
650-725-5374
Stanford University Medical Center
30-May-2007


Page: 1 2 3

Related medicine news :

1. New nutritional research: College students face obesity, high blood pressure, metabolic syndrome
2. Transplanting human gut bugs into mice helps understanding of metabolic system
3. Dialysis patients with metabolic syndrome show increased risk for heart disease
4. Existing research supports metabolic syndrome link to cardiovascular disease
5. TV viewing and physical inactivity independently associated with metabolic risk in children
6. More aggressive treatment warranted in patients with metabolic syndrome
7. Blocking key protein reduces inflammatory markers in metabolic syndrome
8. Low-carb diet better than low-fat diet at improving metabolic syndrome
9. Exercise may ward off death in women with metabolic syndrome
10. Nature publication reports key links between mechanisms of aging and metabolic disorders
11. Patients with metabolic syndrome, moderate coronary calcium have greater risk of blocked arteries

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/15/2019)... ... ... Nashville Fertility Center (NFC) is proud to announce that Kristin Van Heertum ... to treating general infertility, Dr. Van Heertum offers expertise in fertility surgery and treatment ... Van Heertum joining the practice and believes she is the perfect fit. According to ...
(Date:10/11/2019)... , ... October 11, 2019 , ... A Topping Out ... new headquarters facility by general contractors Adolfson & Peterson Construction. The event celebrated reaching ... at 8190 Midtown Road in Dallas. The first of its kind in Texas, STA’s ...
(Date:10/10/2019)... (PRWEB) , ... October 10, 2019 , ... Caring.com, a ... Report on the Best and Worst Places for Seniors to Live. All 50 states ... engagement, transportation, quality of life and workforce development. , According to the ...
(Date:10/8/2019)... ... 2019 , ... What unique insights can three former Surgeons General of the ... the nation? That question will be answered at ICAA 2019: Shaping the Future of ... event will take place October 10-12, 2019, at the Gaylord Palms Resort and Convention ...
(Date:10/8/2019)... CA (PRWEB) , ... October 08, 2019 , ... Dr. ... gum disease in San Jose, CA experience relief from this common and treatable condition. ... in order to save adults from living with uncomfortable symptoms, including tender and bleeding ...
Breaking Medicine News(10 mins):
(Date:10/8/2019)... ... October 08, 2019 , ... ... farmers a wider range of novel, microbial-based crop protection products. , Under the ... natural product starting points. In a first for the agriculture industry, Corteva will ...
(Date:10/8/2019)... ... October 08, 2019 , ... ... today announced that FocalPoint Holdings, a privately-held investment and management firm specializing ... more than 8,000 ophthalmology and optometry providers Luma Health’s patient relationship technology ...
(Date:10/8/2019)... ... October 08, 2019 , ... AdventHealth Wesley ... and provide safer, convenient options for patients who require treatment. The hospital is ... enhanced mammography is used to detect tumors in dense breasts that may not ...
Breaking Medicine Technology:
Cached News: