Argininemia

Common Name(s)

Argininemia, Arginase Deficiency

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 "Argininemia" 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 "Argininemia" 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 "Argininemia" returned 3 free, full-text research articles on human participants. First 3 results:

Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
 

Author(s): T Uchino, Y Haraguchi, J M Aparicio, N Mizutani, M Higashikawa, H Naitoh, M Mori, I Matsuda

Journal: Am. J. Hum. Genet.. 1992 Dec;51(6):1406-12.

 

Argininemia is caused by a hereditary deficiency of liver-type arginase (E.C.3.5.3.1) and is characterized by psychomotor retardation and spastic tetraplegia. We examined findings in three Japanese patients with argininemia, by using the PCR, cloning, and sequencing procedures. We ...

Last Updated: 14 Jan 1993

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Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
 

Author(s): Y Haraguchi, J M Aparicio, M Takiguchi, I Akaboshi, M Yoshino, M Mori, I Matsuda

Journal: J. Clin. Invest.. 1990 Jul;86(1):347-50.

 

Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from ...

Last Updated: 13 Aug 1990

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A successful trial of enzyme replacement therapy in a case of argininemia.
 

Author(s): T Sakiyama, H Nakabayashi, H Shimizu, W Kondo, S Kodama, T Kitagawa

Journal: Tohoku J. Exp. Med.. 1984 Mar;142(3):239-48.

 

A 5-year-old boy with severe mental retardation and spastic quadriplegia accompanied by tonic seizures and hyperammonemia was diagnosed as having argininemia due to an arginase deficiency in his erythrocytes. His motor and mental abilities began to deteriorate at the age of 3 years. ...

Last Updated: 10 Jul 1984

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

[Advances in clinical and molecular genetics studies on argininemia].
 

Author(s): Tong-Fei Wu, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):954-9.

 

Argininemia is a rare, autosomal recessive, metabolic disorder caused by an hereditary deficiency of hepatocytes arginase due to ARG1 gene defect. Arginase is the final enzyme in the urea cycle, catalyzing the hydrolysis of arginine to ornithine and urea. Research advances in the ...

Last Updated: 15 Nov 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.