Featured Research

from universities, journals, and other organizations

Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease

Date:
April 10, 2006
Source:
Children's Hospital of Pittsburgh
Summary:
Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from Children's Hospital of Pittsburgh and the Clinic for Special Children.

Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from Children's Hospital of Pittsburgh and the Clinic for Special Children.

All patients from the study (ranging in age from 1-20) are alive and well with normal liver function, according to the researchers. Amino acid levels in the study patients stabilized within 6-12 hours of transplant and remained stable since transplant despite unrestricted intake of protein.

MSUD is a metabolic disease which causes amino acids from proteins to accumulate in the body. The disease gets its names from the sweet smell of the urine. The accumulation of amino acids in the blood can cause metabolic crisis at any age, which can lead to brain swelling, stroke and even sudden death. Over a patient's lifetime, chronic instability of blood amino acids can result in serious learning disabilities and mental illness.

Before transplant, the only treatment was strict adherence to a diet almost devoid of protein. Despite adherence to this diet, patients were still at risk of metabolic crisis from something as simple as a common cold, which can disrupt the body's metabolism and cause rapid neurological deterioration.

In 1997, an MSUD patient at another hospital received a liver transplant due to an unrelated medical condition and physicians noticed the symptoms of her MSUD were alleviated.

Based on this serendipitous result, physicians from Children's and the Clinic for Special Children, located in Strasburg, Pa., began working collaboratively to develop a liver transplant protocol for MSUD which optimized patient safety. With a comprehensive, multidisciplinary protocol established, Children's transplant surgeons began performing liver transplants on MSUD patients in May 2004. Children's has performed 18 MSUD liver transplants since then.

The study by Children's and the Clinic for Special Children involved 11 of these MSUD patients, including the original patient. Results of the study are published in the March issue of the American Journal of Transplantation.

"The development of liver transplantation as a treatment for MSUD has dramatically improved our patients' quality of life," said George V. Mazariegos, director of Pediatric Transplantation at Children's and one of the study authors. "Our MSUD patients and their families had lived in fear of everything from a chicken nugget to a common cold. Liver transplantation is not without risks, but for some patients, it is the best option and it has allowed these recipients and their families to live without fear of simple things most people take for granted."

Kevin A. Strauss, MD, a pediatrician at the Clinic for Special Children and a co-author of the study, said that over the past 15-20 years, early diagnosis of MSUD followed by careful nutritional therapy have improved the health and developmental outcome of affected individuals.

"Nevertheless, the risk for metabolic crisis and acute neurological injury is always present, and many older individuals with MSUD suffer from depression, anxiety, and impaired concentration and learning," Dr. Strauss said. "Liver transplantation protects patients from these acute and chronic neurological complications. It is a reasonable alternative to nutritional therapy, particularly for patients with poor access to specialized medical care. However, liver transplantation is not without serious risks, and decisions about the best course of therapy will vary on an individual basis."

For more information on Children's transplant program and its MSUD transplant protocol, please visit www.chp.edu.


Story Source:

The above story is based on materials provided by Children's Hospital of Pittsburgh. Note: Materials may be edited for content and length.


Cite This Page:

Children's Hospital of Pittsburgh. "Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease." ScienceDaily. ScienceDaily, 10 April 2006. <www.sciencedaily.com/releases/2006/04/060410161437.htm>.
Children's Hospital of Pittsburgh. (2006, April 10). Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2006/04/060410161437.htm
Children's Hospital of Pittsburgh. "Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease." ScienceDaily. www.sciencedaily.com/releases/2006/04/060410161437.htm (accessed July 22, 2014).

Share This




More Health & Medicine News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Courts Conflicted Over Healthcare Law

Courts Conflicted Over Healthcare Law

AP (July 22, 2014) Two federal appeals courts issued conflicting rulings Tuesday on the legality of the federally-run healthcare exchange that operates in 36 states. (July 22) Video provided by AP
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
Scientists Find New Way To Make Human Platelets

Scientists Find New Way To Make Human Platelets

Newsy (July 22, 2014) Boston scientists have discovered a new way to create fully functioning human platelets using a bioreactor and human stem cells. Video provided by Newsy
Powered by NewsLook.com
Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
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