Argininosuccinic Aciduria

Common Name(s)

Argininosuccinic Aciduria, Argininosuccinate lyase deficiency

Argininosuccinic aciduria (ASA) is a rare genetic condition resulting from a mutation (error) in a person’s DNA. People with ASA have too much ammonia in their blood. ASA is considered a urea cycle disorder. The protein we get from food is broken down into its amino acids or building blocks. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) break down the extra amino acids and one of the waste products is nitrogen. This nitrogen is normally changed by 6 enzymes in the urea cycle to urea which we get rid of in our urine. If the cycle is not complete, ammonia, one of the products made in the urea cycle builds up. In this case the enzyme, arginosuccinic acid lyase (ASAL), is not working and this causes high levels of ammonia to be in the blood.

Changes in the ASL gene cause ASA and it is an autosomal recessive condition. There are two forms of ASA. Symptoms of the most common form usually show in the first few days of life. In the second form, signs may begin to show during late infancy or early childhood. Symptoms of ASA include poor appetite, irritability, vomiting, tiredness, seizures, trouble breathing, uncontrolled body movements, or delayed growth. Treatment may include a specific diet in order to avoid certain proteins that cannot be broken down. Special foods or formulas may also be recommended. Early diagnosis has shown to be effective in improving the health of individuals with HMG. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Argininosuccinic Aciduria" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 27 Jul 2015

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National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research.

Last Updated: 11 Jun 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Argininosuccinic Aciduria" for support, advocacy or research.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 27 Jul 2015

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National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research.

http://www.nucdf.org

Last Updated: 11 Jun 2015

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General Support Organizations

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General Resources

UCD International Patient Registry

Join other UCD families in the only registry in existence designed to accelerate new research specifically for UCDs. Patients & caregivers self-report their own unique experiences with UCD to help improve care and find new treatments.

Updated 18 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Argininosuccinic Aciduria" returned 12 free, full-text research articles on human participants. First 3 results:

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
 

Author(s): Liyan Hu, Amit V Pandey, Sandra Eggimann, Véronique Rüfenacht, Dorothea Möslinger, Jean-Marc Nuoffer, Johannes Häberle

Journal: J. Biol. Chem.. 2013 Nov;288(48):34599-611.

 

Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate lyase (ASL) with a wide clinical spectrum from asymptomatic to severe hyperammonemic neonatal onset life-threatening courses. We investigated the role of ASL transcript ...

Last Updated: 2 Dec 2013

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A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.
 

Author(s): Sandesh C S Nagamani, Oleg A Shchelochkov, Mary A Mullins, Susan Carter, Brendan C Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E O'Brian Smith, Juan C Marini, , Brendan Lee

Journal: Mol. Genet. Metab.. 2012 Nov;107(3):315-21.

 

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).

Last Updated: 29 Oct 2012

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Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
 

Author(s): Sandesh C S Nagamani, Philippe M Campeau, Oleg A Shchelochkov, Muralidhar H Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K Reddy, Li Li, Timothy C Slesnick, Daniel I Feig, Susan Caudle, David Harrison, Leonardo Salviati, Juan C Marini, Nathan S Bryan, Ayelet Erez, Brendan Lee

Journal: Am. J. Hum. Genet.. 2012 May;90(5):836-46.

 

Argininosuccinate lyase (ASL) is required for the synthesis and channeling of L-arginine to nitric oxide synthase (NOS) for nitric oxide (NO) production. Congenital ASL deficiency causes argininosuccinic aciduria (ASA), the second most common urea-cycle disorder, and leads to deficiency ...

Last Updated: 7 May 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Argininosuccinic Aciduria" returned 2 free, full-text review articles on human participants. First 3 results:

Optimizing therapy for argininosuccinic aciduria.
 

Author(s): Sandesh C S Nagamani, Brendan Lee, Ayelet Erez

Journal: Mol. Genet. Metab.. 2012 Sep;107(1-2):10-4.

 

Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. In spite of a lower risk for recurrent hyperammonemic episodes as compared to the proximal disorders of ureagenesis, subjects with ASA are at risk for long-term complications including, poor neurocognitive ...

Last Updated: 17 Sep 2012

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Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
 

Author(s): Ayelet Erez, Sandesh C Sreenath Nagamani, Brendan Lee

Journal: Am J Med Genet C Semin Med Genet. 2011 Feb;157C(1):45-53.

 

The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia. ...

Last Updated: 21 Feb 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Nitric Oxide Supplementation in Argininosuccinic Aciduria
 

Status: Recruiting

Condition Summary: Argininosuccinic Aciduria; Argininosuccinate Lyase Deficiency; Urea Cycle Disorders

 

Last Updated: 20 Jul 2015

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