Arginase Deficiency

Common Name(s)

Arginase Deficiency, Argininemia

Arginase deficiency is an inherited condition in which the body does not properly process protein in the diet.  Individuals with this disease appear healthy at birth, but later develop symptoms between the ages of one and three.  Symptoms of arginase deficiency include muscle stiffness (spasticity), decreased growth and intellectual development, and seizures.  Arginase deficiency is caused by mutations in the ARG1 gene.  Treatment may include limiting the amount of protein in the diet, using special dietary formulas that are low in protein, and taking certain medications to remove excess nitrogen from the blood.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arginase Deficiency" 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 "Arginase Deficiency" 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 "Arginase Deficiency" returned 9 free, full-text research articles on human participants. First 3 results:

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
 

Author(s): Shailly Jain-Ghai, Sandesh C Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum

Journal: Mol. Genet. Metab.. ;104(1-2):107-11.

 

Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually ...

Last Updated: 12 Sep 2011

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Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
 

Author(s): Michael S Oldham, John W VanMeter, Kyle F Shattuck, Stephen D Cederbaum, Andrea L Gropman

Journal: Pediatr. Neurol.. 2010 Jan;42(1):49-52.

 

Individuals with a proximal urea cycle disorder, such as carbamoyl phosphate synthetase deficiency 1 or ornithine transcarbamylase deficiency, may present with encephalopathy resulting from hyperammonemia. The clinical presentation of arginase deficiency is considerably different, ...

Last Updated: 17 Dec 2009

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Mouse model for human arginase deficiency.
 

Author(s): Ramaswamy K Iyer, Paul K Yoo, Rita M Kern, Nora Rozengurt, Rosemarie Tsoa, William E O'Brien, Hong Yu, Wayne W Grody, Stephen D Cederbaum

Journal: Mol. Cell. Biol.. 2002 Jul;22(13):4491-8.

 

Deficiency of liver arginase (AI) causes hyperargininemia (OMIM 207800), a disorder characterized by progressive mental impairment, growth retardation, and spasticity and punctuated by sometimes fatal episodes of hyperammonemia. We constructed a knockout mouse strain carrying a nonfunctional ...

Last Updated: 7 Jun 2002

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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 "Arginase Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
 

Author(s): Fernando Scaglia, Brendan Lee

Journal: Am J Med Genet C Semin Med Genet. 2006 May;142C(2):113-20.

 

The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Urea cycle disorders are a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia and hyperglutaminemia. Deficiencies of all of the enzymes ...

Last Updated: 24 Apr 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.