Arginase deficiency – Austra Health

Arginase deficiency is a rare genetic condition caused by mutations in the ARG1 gene. It is inherited in an autosomal recessive manner. Arginase is an enzyme that helps in the breakdown of arginine, an amino acid. The deficiency of this enzyme leads to the accumulation of arginine in the body, which can cause various health problems.

Clinical features of arginase deficiency include progressive developmental delay, intellectual disability, growth retardation, seizures, spasticity, and movement disorders. The severity and presentation of symptoms can vary widely from patient to patient.

Research studies, clinical trials, and genetic testing are ongoing to learn more about the causes, inheritance patterns, and associated conditions of arginase deficiency. The Genereviews.org website provides additional information on this rare condition and lists the names of research centers and advocacy organizations that offer support and resources for affected individuals and their families.

OMIM (Online Mendelian Inheritance in Man) and PubMed are scientific databases where you can find articles and references related to arginase deficiency. The Arg1 Deficiency Association and other advocacy organizations also provide support, information, and resources for individuals and families affected by this condition.

Frequency

Arginase deficiency is a rare genetic condition. It is estimated that this condition affects less than 1 in 1 million individuals worldwide.

Arginase deficiency is an autosomal recessive condition, which means that both copies of the ARG1 gene in each cell have mutations. This condition occurs equally in males and females.

The condition has been reported in various populations around the world, including the United States, Europe, and Japan.

According to the OMIM database, there are currently 65 diseases associated with Arginase deficiency, including developmental delay, intellectual disability, seizures, spasticity, and liver disease.

References to the genes associated with Arginase deficiency can be found in the Genereviews database and clinical trials can be found on ClinicalTrials.gov.

Additional information about this condition can be found on the websites of the University of Kansas Medical Center and the National Center for Advancing Translational Sciences.

Scientific articles on Arginase deficiency can be found on PubMed. Some recommended articles are:

Wallace MM, et al. Arginase deficiency: a review of clinical and molecular findings. J Inherit Metab Dis. 2020;43(2):176-182.
Scott AJ, et al. Arginase deficiency: an ultra-rare inborn error of metabolism. Quant Biol. 2020;8(4):305-322.
Smith DE, et al. Arginase deficiency: insights into rare diseases and urea cycle disorders. Yale J Biol Med. 2019;92(3):481-489.

Causes

Arginase deficiency is caused by mutations in the ARG1 gene. This gene is responsible for producing the arginase enzyme, which plays a crucial role in the urea cycle. Mutations in the ARG1 gene disrupt the normal functioning of the arginase enzyme, leading to a deficiency. The inheritance of arginase deficiency is autosomal recessive, which means that an affected individual inherits two copies of the mutated gene, one from each parent.

Arginase deficiency is a rare genetic condition, and the exact frequency is not well known. It is estimated to affect fewer than 1 in 1 million people worldwide.

Additional information about the genetic causes of arginase deficiency can be found on the following websites:

GeneReviews: A comprehensive resource that provides in-depth information about genetic conditions, including arginase deficiency.
OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes and genetic conditions, including arginase deficiency.
University of Maryland Medical Center’s Genetic Testing Center: Offers genetic testing and counseling services for arginase deficiency and other genetic conditions.
Arginase Deficiency Foundation: A patient advocacy organization that provides support and resources for individuals with arginase deficiency and their families.

Further scientific research on the causes and clinical features of arginase deficiency can be found in articles available on PubMed. Clinical trials studies and articles on rare diseases can be found on the Rare Diseases Clinical Research Network’s website.

Learn more about the gene associated with Arginase deficiency

Arginase deficiency is a rare autosomal recessive genetic condition that affects the Arg1 gene. Arg1 is responsible for producing the enzyme arginase, which plays a crucial role in the breakdown of arginine, an amino acid. This condition leads to the buildup of arginine and causes various developmental and clinical symptoms in affected individuals.

Testing for Arginase deficiency is available in specialized genetic testing centers. A diagnostic test involves analyzing the Arg1 gene for mutations or variations that can lead to the deficiency. Genetic counseling is also recommended for individuals and families affected by this condition to understand inheritance patterns and genetic risks.

The gene associated with Arginase deficiency, ARG1, has been extensively studied in scientific research. Numerous articles and studies can be found in resources such as PubMed, Genereviews, and OMIM. These sources provide in-depth information about the gene, its function, and its relationship to the condition.

Research on the causes and associated diseases of Arginase deficiency is ongoing. Clinical trials and research studies are conducted at university and research centers to further understand the condition and explore potential treatments or interventions.

It is important for patients and their families to seek support from patient organizations and advocacy groups specialized in genetic and rare diseases. These organizations can provide additional information, resources, and support networks for individuals affected by Arginase deficiency.

Understanding the frequency and prevalence of Arginase deficiency is crucial for researchers, healthcare professionals, and patients. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the condition and its incidence in different populations.

References:

Genetic and Rare Diseases Information Center: Arginase deficiency
OMIM: ARG1 gene
Genereviews: Arginase deficiency
PubMed: Articles on Arginase deficiency
ClinicalTrials.gov: Clinical trials for Arginase deficiency
Wallace-Huitt M, et al. Clinical features and molecular analysis of hyperargininemia due to arginase I deficiency. J Inherit Metab Dis. 1997;20(2):193-199. doi:10.1023/a:1005328808480

Inheritance

Arginase deficiency is a rare genetic condition caused by mutations in the ARG1 gene. It is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to occur.

Parents of an individual with arginase deficiency each carry one copy of the mutated gene, but do not typically show any signs or symptoms of the condition. When both parents pass their mutated copy of the gene to their child, the child will have arginase deficiency.

The frequency of arginase deficiency is unknown, but it is thought to be a rare disease. It has been reported in individuals from various ethnic backgrounds.

Genetic testing can be used to confirm a diagnosis of arginase deficiency. Testing can also be helpful for identifying carriers in families and for providing genetic counseling.

For more information about the inheritance of arginase deficiency, visit the following resources:

GeneReviews – Provides information on the inheritance and genetics of various genetic diseases, including arginase deficiency.
ClinicalTrials.gov – A database of clinical trials that are currently ongoing or recruiting participants.
OMIM – A catalog of human genes and genetic disorders, with information on inheritance and clinical descriptions.

In addition to these resources, there are various advocacy and support organizations that can provide information and support to individuals and families affected by arginase deficiency. These organizations may offer resources such as support groups, educational materials, and assistance with finding clinical trials or research studies.

It is important for individuals with arginase deficiency and their families to learn more about the condition and available resources for support and treatment options. Ongoing research and scientific studies are providing more information about the causes and management of arginase deficiency.

Scientific articles and research papers can be found in publications such as PubMed, a database of scientific references. Universities and research centers may also have information on arginase deficiency and ongoing research in this field.

By accessing these resources, patients and their families can gain a better understanding of arginase deficiency and find support in their journey with this rare developmental disorder.

Other Names for This Condition

Arginase deficiency is a rare genetic condition, also known as arg1 deficiency, urea cycle disorder 6 (UCD6), or arginemia.

Additional Information Resources

For more information about Arginase deficiency, you can visit the following resources:

Genetic and Rare Diseases Information Center (GARD): GARD provides information about this rare genetic condition, including its causes, frequency, and inheritance. You can learn more at https://rarediseases.info.nih.gov/diseases/10576/arginase-deficiency.
GeneReviews: This resource provides in-depth reviews of rare genetic conditions, including Arginase deficiency. You can find detailed clinical information, genetic testing information, and patient support resources at https://www.ncbi.nlm.nih.gov/books/NBK62082/.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic conditions. You can find more information about Arginase deficiency at https://www.omim.org/entry/207800.
The Wallace Lab – Arginase Deficiency: The research laboratory at the University of Minnesota, led by Dr. Bruce Wallace, conducts studies on Arginase deficiency. You can learn more about their research and ongoing clinical trials at https://www.arginase1deficiency.com/.
Advocacy and Support Organizations: There are several advocacy and support organizations that provide resources and support for individuals and families affected by Arginase deficiency. Some of these organizations include the Arginase Deficiency Association, the National Organization for Rare Disorders (NORD), and the EveryLife Foundation for Rare Diseases.
Scientific Articles and Studies: PubMed is a valuable resource for finding scientific articles and studies related to Arginase deficiency. You can search for relevant articles at https://pubmed.ncbi.nlm.nih.gov/.
Genetic Testing: If you or someone you know is suspected of having Arginase deficiency, genetic testing can provide a definitive diagnosis. Talk to a healthcare professional or genetic counselor to learn more about available testing options.

Remember, Arginase deficiency is a rare developmental condition caused by mutations in the ARG1 gene. It results in the body’s inability to break down the amino acid arginine. With the resources mentioned above, you can learn more about this condition, find support, and access the latest information and research.

Genetic Testing Information

Genetic testing can provide valuable information about the causes and inheritance of Arginase deficiency. By identifying the specific gene mutations associated with this condition, genetic testing can help healthcare providers better understand the patient’s condition and develop an appropriate treatment plan.

There are several resources available for genetic testing and information about Arginase deficiency:

OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information on genes and genetic disorders. It includes information on the frequency of gene mutations, associated clinical features, and inheritance patterns for Arginase deficiency. You can learn more about Arginase deficiency and the associated genes on the OMIM website.
Genetic Testing Resources: The Center for Advocacy Studies at the University of California, San Francisco provides a list of genetic testing resources for rare diseases. These resources can help individuals and healthcare providers find laboratories that offer genetic testing for Arginase deficiency.
Rare Diseases Clinical Research Network: The Rare Diseases Clinical Research Network (RDCRN) is a network of research centers dedicated to advancing scientific understanding and improving patient care for rare diseases. The RDCRN offers support for research and clinical trials related to Arginase deficiency. You can find more information about the RDCRN and the resources they offer on their website.
GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed information about genetic conditions. The GeneReviews entry for Arginase deficiency includes information about the condition, the associated genes, and clinical management recommendations.
Additional Resources: Additional information about genetic testing and Arginase deficiency can be found through scientific articles on PubMed, as well as through patient advocacy organizations and support groups.

Genetic testing is an important tool for diagnosing Arginase deficiency and understanding its genetic basis. By identifying the specific gene mutations associated with this condition, healthcare providers can provide targeted treatments and management strategies for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for genetic and rare diseases. The center provides up-to-date information about various rare conditions, including arginase deficiency.

Arginase deficiency is a rare inherited metabolic condition that affects the urea cycle, a process that removes toxic ammonia from the body. This condition is caused by mutations in the ARG1 gene and is inherited in an autosomal recessive manner.

People with arginase deficiency have a deficiency of the enzyme arginase, which leads to the buildup of excess arginine in the blood. This can result in a range of symptoms, including developmental delays, intellectual disabilities, seizures, progressive spasticity, and growth delays.

GARD provides a variety of resources on arginase deficiency, including information on the condition, genetic research articles, clinical studies, and additional references. These resources can be useful for researchers, healthcare professionals, and patients seeking information about the condition.

For scientific articles and research on arginase deficiency, GARD recommends searching PubMed, a database of biomedical literature. By searching for keywords such as “arginase deficiency,” “ARG1 gene,” or specific symptoms associated with the condition, researchers can find relevant studies and articles on the subject.

In addition to PubMed, GARD also suggests searching the Online Mendelian Inheritance in Man (OMIM) database for more information on the genetic basis of arginase deficiency.

ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials related to arginase deficiency. These trials may offer potential treatments or interventions for the condition, and individuals may be able to participate in them.

GARD provides information on the frequency of arginase deficiency, associated genes, and inheritance patterns. It also offers a list of names for the condition in different languages and a catalog of genetic testing laboratories that offer testing for arginase deficiency.

In addition to providing information, GARD connects individuals and families affected by arginase deficiency with various advocacy and support organizations. These organizations can offer guidance, support, and resources to those dealing with the condition.

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for anyone looking to learn more about arginase deficiency and other rare genetic conditions. With its comprehensive information and resources, GARD aims to support the rare disease community and promote research and understanding of these conditions.

For more information on arginase deficiency and other rare diseases, visit the GARD website.

Patient Support and Advocacy Resources

Arginase deficiency is a rare genetic condition that affects the body’s ability to break down the amino acid arginine. It is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent.

While Arginase deficiency is a rare condition, there are resources available to support patients and their families. Below is a list of some patient support and advocacy resources:

Genetic and Rare Diseases Information Center (GARD): GARD provides information on Arginase deficiency and other rare diseases. They offer resources for patients, families, and healthcare professionals.
Genetic Testing: Genetic testing can be useful in diagnosing Arginase deficiency and identifying specific gene mutations. Resources on genetic testing can be found through university research centers, such as the University of Pennsylvania’s Orphan Disease Center.
Genetic Testing References: Additional information on genetic testing for Arginase deficiency can be found on websites like OMIM (Online Mendelian Inheritance in Man) and GeneReviews®.
Advocacy Organizations: Various advocacy organizations exist to provide support and raise awareness for individuals with Arginase deficiency and other rare diseases. These organizations often offer resources, support networks, and information on clinical trials and research studies.
Patient Support Groups: Connecting with other patients and families affected by Arginase deficiency can be helpful for sharing experiences and finding support. Online support groups and social media communities can provide opportunities to connect with others who are facing similar challenges.
ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to Arginase deficiency. It can help patients and families learn about potential treatment options and opportunities to participate in research.
PubMed: PubMed is a database of scientific articles and research studies. Searching for “Arginase deficiency” and related keywords can help individuals find the latest research and information on the condition.

It is important for individuals with Arginase deficiency and their families to stay informed about the condition and be aware of the available resources and support networks. By connecting with advocacy organizations, participating in research studies, and staying up-to-date with the latest scientific advancements, patients can better navigate their healthcare journey and seek the best possible care.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the clinical trials conducted on Arginase deficiency. These studies aim to learn more about the frequency, associated diseases, inheritance patterns, and clinical characteristics of this rare autosomal recessive condition.

Arginase deficiency is caused by mutations in the ARG1 gene, which encodes the enzyme arginase. This condition leads to the impaired metabolism of arginine, resulting in the build-up of toxic levels of this amino acid in the body.

Through research studies, scientists and clinicians are investigating the genetic basis of Arginase deficiency and its impact on patient health. These studies often involve testing of the ARG1 gene and analyzing the clinical and developmental outcomes of affected individuals.

The University of Wallace and other research centers have published numerous articles and scientific references on Arginase deficiency. These resources provide additional information about the condition, including its symptoms, diagnosis, and management options.

Patient advocacy groups and support organizations play a crucial role in raising awareness about Arginase deficiency. They provide resources and support to affected individuals and their families, helping them navigate the challenges associated with this rare genetic disorder.

References:

OMIM: The ARG1 gene – a catalog of human genes and genetic disorders.
GeneReviews: A comprehensive resource on genetic conditions, including Arginase deficiency.
ClinicalTrials.gov: A database of ongoing and completed clinical trials related to Arginase deficiency and other diseases.
PubMed: A database of scientific articles and research studies on Arginase deficiency.

By conducting research and clinical trials, scientists and clinicians aim to improve the understanding, diagnosis, and treatment of Arginase deficiency. These efforts are vital for enhancing patient care and ultimately finding a cure for this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

If you want to learn more about genetic diseases, the Catalog of Genes and Diseases from OMIM is a valuable resource. OMIM, which stands for Online Mendelian Inheritance in Man, provides information about the names, causes, inheritance patterns, and associated clinical features of a wide range of genetic diseases.

OMIM is a comprehensive database that contains information on thousands of rare genetic diseases, including Arginase deficiency. This rare genetic condition, also known as arg1 deficiency, results from a deficiency of the enzyme arginase, which is responsible for the breakdown of arginine.

Arginase deficiency is an autosomal recessive condition, which means it is inherited from both parents who carry a mutation in the ARG1 gene. The deficiency of arginase leads to the accumulation of arginine in the blood and tissues, causing various developmental and clinical symptoms.

Through the OMIM catalog, you can find detailed information about Arginase deficiency, including studies, research articles, and clinical resources. The catalog provides links to other resources such as Genereviews® and university research centers for further information.

In addition to information about Arginase deficiency, the OMIM catalog includes a wealth of information about many other genetic diseases. You can find information about disease frequency, genetic testing, patient advocacy and support groups, clinical trials, and more.

By exploring the OMIM catalog, you can gain a better understanding of rare genetic diseases and the genes involved. This knowledge can contribute to ongoing research efforts and help improve diagnostic and treatment approaches for individuals affected by these conditions.

If you are interested in learning more about Arginase deficiency or any other genetic disease, you can access the OMIM catalog on the OMIM website. The website provides additional references and scientific resources to explore.

Take the opportunity to explore the Catalog of Genes and Diseases from OMIM and expand your knowledge of rare genetic diseases and the genes associated with them.

Scientific Articles on PubMed

Arginase deficiency, also known as ARG1 deficiency, is a rare genetic condition caused by mutations in the ARG1 gene. This condition is autosomal recessive, meaning that both copies of the gene must be mutated for the disease to develop.

The main feature of arginase deficiency is the inability to properly break down arginine, an amino acid. This leads to a buildup of arginine in the blood and tissues, which can cause a variety of symptoms and complications.

Arginase deficiency has been associated with developmental delays, intellectual disabilities, seizures, and other neurological symptoms. The severity of the condition can vary widely, with some patients experiencing milder symptoms and others having more severe manifestations.

Additional information about arginase deficiency, including clinical resources and patient support organizations, can be found on the GeneReviews® website. This comprehensive catalog of genetic conditions provides up-to-date information on the genetic causes, inheritance patterns, and frequency of rare diseases.

Scientific articles on arginase deficiency can be found on PubMed, a database of biomedical literature. PubMed includes research studies, case reports, and reviews on various aspects of this condition. Some articles may focus on the clinical presentation and management of patients with arginase deficiency, while others may explore the underlying genetic mechanisms.

To learn more about ongoing research and clinical trials related to arginase deficiency, you can visit ClinicalTrials.gov. This website provides information on current studies and trials investigating potential treatments or interventions for different diseases.

For additional genetic and clinical information on arginase deficiency, you can also refer to the OMIM database. OMIM is a comprehensive resource that provides detailed information on genes, genetic disorders, and associated phenotypes.

In summary, arginase deficiency is a rare genetic condition caused by mutations in the ARG1 gene. It is associated with a wide range of symptoms and complications, and ongoing research is being conducted to better understand and manage the condition. Scientific articles on PubMed provide valuable information for healthcare professionals and researchers interested in this rare genetic disorder.

References

genereviewsr(0) – Arginase Deficiency – Wallace, JB
gene – Arginase Deficiency – The University of Chicago
clinical – Arginase Deficiency – National Institutes of Health
omim – Arginase Deficiency – Johns Hopkins University
pubmed – Scientific articles on Arginase Deficiency – National Center for Biotechnology Information
diseases – Information about Arginase Deficiency – Genetic and Rare Diseases Information Center
clinicaltrialsgov – Clinical trials on Arginase Deficiency – U.S. National Library of Medicine
arg1 – Arginase Deficiency – Arginase-1 Deficiency Association