Argininosuccinic Aciduria

Common Name(s)

Argininosuccinic Aciduria, Argininosuccinate lyase deficiency

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. The condition is caused by mutations in the ASL gene and is inherited in an autosomal recessive pattern.  Long-term management includes dietary restriction of protein and supplementation with arginine. Acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis may be necessary.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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 leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, 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 and development of new treatments.

Last Updated: 18 Mar 2013

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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.

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 leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, 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 and development of new treatments.

http://www.nucdf.org

Last Updated: 18 Mar 2013

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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 11 free, full-text research articles on human participants. First 3 results:

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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Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
 

Author(s): Bee Chin Chen, Lock Hock Ngu, Md Yunus Zabedah

Journal: Malays J Pathol. 2010 Dec;32(2):87-95.

 

Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary ...

Last Updated: 18 Feb 2011

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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

Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders; Organic Acidemias

 

Last Updated: 18 Jun 2012

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