Arginase deficiency

Common Name(s)

Arginase deficiency, Argininemia

Argininemia (ARG) is a rare genetic condition, resulting from a mutation (error) in a person’s DNA. People with ARG are unable to breakdown the amino acid, arginine. Therefore, ARG is considered an amino acid condition. Amino acids are the “building blocks” of protein. They are created when the protein we get from food is broken down. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia and then harmless products our body can get rid of. If one of the enzymes needed to breakdown the amino acid is missing or not working correctly, the amino acid builds up in our bodies. The buildup of these acids and ammonia can damage our body. In this case the enzyme, arginase, is unable to break down the amino acid, arginine, and unable to remove ammonia from the blood.

ARG is an autosomal recessive condition. Symptoms usually begin around 1 to 3 years of age, but may begin to noticeable during infancy. Symptoms include delayed growth, developmental delays, balancing trouble, tight muscles, irritability, poor appetite, vomiting, weak muscle tone, breathing trouble, trouble regulating body temperature, small head size, and hyperactivity. Treatment may include a special diet. 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 "Arginase deficiency" 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: 28 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arginase deficiency" 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: 28 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 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 10 free, full-text research articles on human participants. First 3 results:

Arginase 2 deficiency prevents oxidative stress and limits hyperoxia-induced retinal vascular degeneration.
 

Author(s): Jutamas Suwanpradid, Modesto Rojas, M Ali Behzadian, R William Caldwell, Ruth B Caldwell

Journal:

 

Hyperoxia exposure of premature infants causes obliteration of the immature retinal microvessels, leading to a condition of proliferative vitreoretinal neovascularization termed retinopathy of prematurity (ROP). Previous work has demonstrated that the hyperoxia-induced vascular injury ...

Last Updated: 7 Nov 2014

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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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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

A Study of AEB1102 in Patients With Arginase I Deficiency
 

Status: Not yet recruiting

Condition Summary: Arginase I Deficiency

 

Last Updated: 30 Jun 2015

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