NewsRx

Search our medical news database

Argininosuccinic Aciduria News and Articles

Return to Library

NewsRx Bundle

A quick and inexpensive way to view the most recent articles for a one-time project.

Custom Reports on Argininosuccinic Aciduria

Tired of prepackaged reports that just don't meet your needs? Target your needs!

What is argininosuccinic aciduria?

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life.

An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications.

Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.

How common is argininosuccinic aciduria?

Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.

What genes are related to argininosuccinic aciduria?

Mutations in the ASL gene cause argininosuccinic aciduria.

Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.

Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.

How do people inherit argininosuccinic aciduria?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Source: National Institutes of Health

Recent Argininosuccinic Aciduria News and Articles


Study Results from Howard Hughes Medical Institute in the Area of Clinical Trials Research Published

2012 DEC 24 (NewsRx) -- By a News Reporter-Staff News Editor at Clinical Trials Week -- Current study results on Drugs and Therapies have been published. According to news originating from Houston, Texas, by NewsRx correspondents, research stated, "To compare the effects of combinatorial therapy with low-dose arginine and a nitrogen scavenging agent (sodium phenylbutyrate) vs. monotherapy with high-dose arginine on liver function tests in patients with argininosuccinic aciduria (ASA). Twelve patients with ASA were enrolled in a double-blind, placebo-controlled, cross-over study design."

Our news journalists obtained a quote from the research from Howard Hughes Medical Institute, "Subjects were randomized to receive either a low-dose of arginine therapy (100 mg.kg(-1).d(-1)) combined with sodium phenylbutyrate (500 mg.kg(-1).d(-1)) (LDA arm) or a high-dose of arginine alone (500 mg.kg(-1).d(-1)) (HDA arm) for one week. At the end of one week of therapy, liver function tests were assessed and metabolite fluxes were measured using a multi-tracer stable isotope protocol. Plasma aspartate aminotransferase (AST), alanine aminotransferase (ALT), and measures of synthetic functions of the liver were the primary outcomes. Subjects had significantly increased levels of argininosuccinate (P <0.03) and AST levels (P <0.01) after treatment with high-dose arginine. In the subset of subjects with elevated AST or ALT, treatment with high-dose of arginine was associated with further increases in plasma levels of both aminotransferases. Whereas subjects had increased arginine and citrulline flux with high-dose arginine therapy, the glutamine flux was not different between the two treatment arms. The synthetic liver functions as assessed by prothrombin time, INR, and coagulation factor levels were not different between the HDA and LDA arms. Administering higher doses of arginine in subjects with ASA results in increases in AST and ALT levels, especially in the subset of patients with elevated baseline aminotransferases."

According to the news editors, the research concluded: "Hence, low-dose arginine sufficient to normalize arginine levels in plasma combined with nitrogen scavenging therapy should be considered as a therapeutic option for treatment of ASA in patients with elevations of hepatic aminotransferases."

For more information on this research see: A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Molecular Genetics and Metabolism, 2012;107(3):315-321. Molecular Genetics and Metabolism can be contacted at: Academic Press Inc Elsevier Science, 525 B St, Ste 1900, San Diego, CA 92101-4495, USA. (Elsevier - www.elsevier.com; Molecular Genetics and Metabolism - www.elsevier.com/wps/product/cws_home/622920)

The news correspondents report that additional information may be obtained from S.C.S. Nagamani, Howard Hughes Med Inst, Houston, TX 77030, United States.

Keywords for this news article include: Texas, Houston, United States, Brain Diseases, Basic Amino Acids, Diamino Amino Acids, Drugs and Therapies, Essential Amino Acids, Clinical Trial Research, North and Central America, Argininosuccinic Aciduria, Inborn Urea Cycle Disorders, Central Nervous System Diseases, Nutritional and Metabolic Diseases

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2012, NewsRx LLC

NewsRx is Social

Follow us on your favorite social network by clicking on a button below:

Follow NewsRx on Twitter

NewsRx on Facebook

Awards

eHealthcare Leadership 2011 Winner
Best Health/Healthcare Content, 2012
Best Health/Healthcare Content, 2011
Best e-Business Site, 2010
Best e-Business Site, 2009
Best e-Business Site, 2008
Best e-Business Site, 2007
Best e-Business Site, 2006
Best Healthcare Content, 2005
Best Overall Internet Site, 2005
Best Interactive Site, 2005

Facts & Stats

NewsRx also is available at LexisNexis, Gale, ProQuest, Factiva, Dialog, Thomson Reuters, NewsEdge, and Dow Jones.

  • Google 2010 PageRank: #2 Among Top Health News and Media Publications
  • Google 2010 PageRank: #2 Among Top Science Publications in Biology/Physiology
  • Google 2010 PageRank: #2 Among Top News and Media for the Business of Pharmaceuticals
  • Amazon's Alexa 2010 PageRank: #2 News and Media Site for the Pharmaceutical Industry
NewsRx on Facebook