Contents
[hide]
[show]

Argininosuccinic aciduria is a rare autosomal recessive disorder caused by a deficiency of the enzyme argininosuccinate lyase. It is also known as argininosuccinic acid lyase deficiency or ASL deficiency. This condition is characterized by the accumulation of argininosuccinic acid in the blood and urine, which leads to elevated ammonia levels in the body. If left untreated, argininosuccinic aciduria can cause severe neurological damage and even death.

Diagnosis of argininosuccinic aciduria can be made through genetic testing, which detects mutations in the ASL gene. Additional testing such as urine and blood tests can be done to confirm the diagnosis and to monitor the levels of argininosuccinic acid and ammonia in the body. Treatment for argininosuccinic aciduria involves a low-protein diet, medications, and sometimes a liver transplant.

Argininosuccinic aciduria is a rare condition, with a frequency estimated to be approximately 1 in 70,000 births. It has been reported in individuals of various ethnic backgrounds. The condition follows an autosomal recessive inheritance pattern, meaning that both copies of the ASL gene must be mutated to develop the disorder. Parents of an affected child usually carry one copy of the mutated gene and are referred to as carriers.

Research studies and clinical trials are ongoing to learn more about the causes, symptoms, and treatment options for argininosuccinic aciduria. Organizations like the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide resources and support for individuals and families affected by this condition. The scientific community continues to explore the potential of gene therapy and other innovative approaches to improve the quality of life for patients with argininosuccinic aciduria.

Frequency

Argininosuccinic aciduria is a rare autosomal recessive metabolic condition. It is caused by a deficiency in the enzyme argininosuccinate lyase (ASL), which is responsible for breaking down argininosuccinic acid in the urea cycle.

This condition is associated with a variety of genes, with mutations in the ASL gene being the most common cause. The frequency of argininosuccinic aciduria varies among different populations, but it is estimated to occur in 1 in every 70,000 to 100,000 live births.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Argininosuccinic aciduria can be detected through newborn screening programs, which test for elevated levels of argininosuccinic acid in the urine. Prompt diagnosis and management of the condition are essential to prevent complications and optimize the patient’s quality of life.

There are several resources available for patients and families affected by argininosuccinic aciduria. Organizations like the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide information about the condition, including clinical features, inheritance patterns, and available support and advocacy groups.

Additional information and scientific research on argininosuccinic aciduria can be found in articles and studies published in PubMed, GeneReviews, OMIM, and other scientific databases. Clinical trials for new treatments or interventions may also be listed on websites like ClinicalTrials.gov.

Causes

Argininosuccinic aciduria is caused by a deficiency of the enzyme argininosuccinate lyase (ASL), which is needed for the breakdown of argininosuccinic acid. This enzyme deficiency is typically due to mutations in the ASL gene.

The ASL gene is located on chromosome 7 (7q11.21) and provides instructions for making the ASL enzyme. Mutations in this gene result in a non-functional or reduced-function ASL enzyme, leading to the accumulation of argininosuccinic acid in the body.

Argininosuccinic aciduria follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of the mutated ASL gene, one from each parent.

While the ASL gene is the primary cause of argininosuccinic aciduria, there may be additional genes or factors that can modify the severity or presentation of the condition.

Research on the causes of argininosuccinic aciduria is ongoing. Studies have identified various ASL gene mutations associated with the condition, and further research is needed to understand the specific impact of each mutation on enzyme function.

Argininosuccinic aciduria is a rare condition, with a frequency estimated to be 1 in 70,000 to 200,000 births. Its rarity makes it challenging to study and understand the specific causes and mechanisms of the condition.

Genetic testing can detect ASL gene mutations and confirm a diagnosis of argininosuccinic aciduria. Testing can also help identify carriers of the condition, allowing for informed family planning.

For patients with argininosuccinic aciduria, supportive care is the primary treatment approach. This involves managing the symptoms and complications associated with the condition, such as monitoring and managing ammonia levels in the blood.

Research on potential treatments and interventions for argininosuccinic aciduria is ongoing. Clinical trials may be available for individuals with the condition, and information can be found on clinicaltrialsgov.

There are various resources available to support individuals and families affected by argininosuccinic aciduria. The National Organization for Rare Disorders (NORD) and the Argininosuccinic Aciduria (ASA) Family Support and Advocacy Group offer information, resources, and support for individuals with the condition.

Scientific articles, research studies, and reviews on argininosuccinic aciduria can be found in medical literature databases such as PubMed. Additional information about the condition may be available through university research centers, genetic testing laboratories, and patient advocacy organizations.

Learn more about the gene associated with Argininosuccinic aciduria

Argininosuccinic aciduria (ASA) is a rare genetic condition caused by a deficiency of the ARG1 gene, which codes for the enzyme argininosuccinate lyase. This enzyme is involved in the urea cycle, a crucial metabolic pathway responsible for removing ammonia from the body. Without functional argininosuccinate lyase, the urea cycle is disrupted, leading to the accumulation of toxic levels of ammonia in the blood.

ASA is inherited in an autosomal recessive manner, meaning that both copies of the ARG1 gene must be broken or mutated for the condition to be present. When both parents are carriers of a broken ARG1 gene, there is a 25% chance of having a child with ASA in each pregnancy.

See also  Fish-eye disease

Genetic information and studies

The ARG1 gene is located on chromosome 6 in humans. The official name of the gene is “argininosuccinate lyase”, and it is also known by other names such as argininosuccinate lyase deficiency, argininosuccinic acid synthetase deficiency, and argininosuccinic aciduria.

There are several resources available for more information about the ARG1 gene and ASA. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the gene, including its structure, function, and known variants associated with ASA. The Genetic Testing Registry (GTR) lists laboratories that offer genetic testing for ASA and provides a summary of the available tests.

Clinical trials and research

Clinical trials are an important part of advancing our understanding and treatment of ASA. The clinicaltrials.gov database provides information about ongoing clinical trials related to ASA, including studies investigating potential new therapies and approaches to managing the condition.

Scientific research continues to uncover new information about the ARG1 gene and ASA. PubMed is a valuable resource for accessing research articles related to ASA and other related topics. Genereviews.org is another useful website that provides expert-authored, peer-reviewed articles on genetic diseases, including ASA.

Patient advocacy and support

For individuals and families affected by ASA, there are advocacy groups and resources available to provide support and information. The National Organization for Rare Disorders (NORD) offers resources, educational materials, and connects individuals with support groups for rare diseases. The University of Washington’s Center for Mendelian Genomics provides an overview of ASA and additional resources for patients and families.

References

  1. “Argininosuccinic Acid Lyase Deficiency” – GeneReviewsr – NCBI Bookshelf
  2. “Argininosuccinic Aciduria” – NORD (National Organization for Rare Disorders)
  3. “Argininosuccinate Lyase Deficiency” – OMIM (Online Mendelian Inheritance in Man)
  4. “ClinicalTrials.gov” – U.S. National Library of Medicine
  5. “Genetic Testing Registry”- NIH (National Institutes of Health)
  6. “PubMed” – U.S. National Library of Medicine

Inheritance

Argininosuccinic aciduria is inherited in an autosomal recessive manner. This means that both copies of the ASC enzyme gene (ASL) must have a mutation in order for the condition to be present. If an individual has one normal ASL gene and one mutated ASL gene, they are known as a carrier and typically do not show any signs or symptoms of the condition. However, carriers have a 50% chance of passing on the mutated gene to each of their children.

When both parents are carriers of a mutated ASL gene, each child has a 25% chance of inheriting two mutated genes and being affected by the condition. This can be detected through genetic testing and prenatal testing is also available for families at risk for having a child with argininosuccinic aciduria.

Argininosuccinic aciduria is a rare genetic disorder with a frequency of about 1 in 70,000 births. It is caused by a deficiency of the enzyme argininosuccinate lyase, which is responsible for breaking down argininosuccinic acid in the urea cycle. Without this enzyme, argininosuccinic acid builds up in the body and can be detected in the urine.

For more information about the inheritance and clinical features of argininosuccinic aciduria, you can visit the following resources:

  • The OMIM entry for argininosuccinic aciduria (OMIM #207900)
  • The GeneReviews article on argininosuccinic aciduria
  • The NORD (National Organization for Rare Disorders) page on argininosuccinic aciduria
  • The University of Maryland Medical Center’s information on argininosuccinic aciduria

Research studies and clinical trials are ongoing to learn more about the causes, clinical features, and treatment options for argininosuccinic aciduria. Additional information and resources can be found on the following websites:

  • The ClinicalTrials.gov database for studies related to argininosuccinic aciduria
  • The Genetic and Rare Diseases Information Center’s page on argininosuccinic aciduria
  • The ARG1 gene page on the gene catalog at NCBI
  • The Learn About ADAM page on argininosuccinic aciduria from the Gripp Advocacy and Support Center
  • The Rare Diseases page on argininosuccinic aciduria from the Genetic and Rare Diseases (GARD) Information Center

Other Names for This Condition

Argininosuccinic aciduria is also known by other names:

  • Argininosuccinate lyase deficiency
  • ASALD
  • GAR type 1
  • ARG deficiency
  • ASA
  • Argininosuccinic acid lyase deficiency
  • ASAHL
  • ASSL deficiency
  • Argininosuccinic aciduria (disorder)
  • Argininosuccinate lyase deficiency (disorder)

Additional Information Resources

Here is a list of additional resources to learn more about Argininosuccinic Aciduria:

  • Clinical Trials: Visit clinicaltrials.gov to find ongoing clinical trials related to Argininosuccinic Aciduria.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes associated with Argininosuccinic Aciduria. Visit omim.org to search for specific genes.
  • Genetic Testing: Genetic testing can detect the presence of gene mutations causing Argininosuccinic Aciduria. Speak with a genetic counselor or your healthcare provider for more information.
  • GeneReviews: GeneReviews offers detailed clinical information about Argininosuccinic Aciduria, including clinical features, inheritance, and management guidelines. Visit genereviews.org to access these resources.
  • Rare Diseases Organizations: Support organizations like the National Organization for Rare Disorders (NORD) and Global Genes provide information and support for individuals and families affected by rare diseases. Visit rarediseases.org and globalgenes.org to learn more.
  • Scientific Articles: PubMed is a great resource for finding scientific articles on Argininosuccinic Aciduria. Visit pubmed.ncbi.nlm.nih.gov and search for relevant keywords.
  • Metabolic Information Centers: University-based metabolic information centers can provide comprehensive information and resources about Argininosuccinic Aciduria. Contact your nearest university or research center for more information.
  • Advocacy and Support Groups: Joining advocacy and support groups can connect you with other individuals and families affected by Argininosuccinic Aciduria. These groups offer emotional support, exchange of information, and educational resources.
  • Adam Catalog of Inherited Diseases: The Adam Catalog provides information about inherited diseases and is a useful resource for understanding the genetic basis and clinical features of Argininosuccinic Aciduria. Visit catalogueoflife.org to access this catalog.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of argininosuccinic aciduria, a rare genetic condition. By analyzing DNA samples, genetic testing can provide valuable information about the specific genetic mutation causing the condition.

Patients with argininosuccinic aciduria have a deficiency in the enzyme argininosuccinate lyase, which is required for the breakdown of arginine in the urea cycle. This results in the accumulation of argininosuccinate and arginine in the body, leading to various symptoms and complications.

Genetic testing can be conducted to identify mutations in the ARG1 gene, which is associated with argininosuccinic aciduria. Testing can be done using different methods, including DNA sequencing, deletions/duplications analysis, and targeted mutation analysis.

See also  Distal myopathy 2

There are several resources available to learn more about genetic testing for argininosuccinic aciduria. The Genetic Testing Registry (GTR) provides information about the frequency of gene mutations and inheritance patterns associated with this condition. The Online Mendelian Inheritance in Man (OMIM) database offers comprehensive information on the ARG1 gene and its associated diseases.

Additionally, the scientific literature provides a wealth of information on genetic testing for argininosuccinic aciduria. PubMed and other research databases contain numerous articles and studies on the topic, which can provide valuable insights into the latest advancements in the field.

Support and advocacy organizations like the National Organization for Rare Disorders (NORD) and the Argininosuccinic Aciduria News are excellent sources of information and resources for patients and families affected by this rare genetic condition. These organizations provide support, educational materials, and information on ongoing research, clinical trials, and available treatments.

In conclusion, genetic testing is a critical tool in the diagnosis and management of argininosuccinic aciduria. It helps identify the specific gene mutations causing the condition, allowing for better understanding, targeted treatments, and ongoing research to improve patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides access to scientifically accurate and reliable information about genetic and rare diseases. GARD is a resource for patients, families, healthcare providers, researchers, and advocates.

Through GARD, individuals can learn more about specific rare diseases, including Argininosuccinic aciduria (ASA), a rare genetic condition that affects the metabolism of arginine. ASA is caused by mutations in the ARG1 gene, which leads to a deficiency in the argininosuccinate lyase enzyme. This enzyme is necessary for the breakdown of argininosuccinic acid in the urea cycle.

GARD provides information on the signs and symptoms of ASA, as well as its associated genetic inheritance pattern (autosomal recessive). Individuals can also find information on the frequency of ASA in the general population, which is estimated to be 1 in 70,000 to 218,000 individuals.

In addition to general information about ASA, GARD offers resources for further research and support. Individuals can access a catalog of genes and their associated rare diseases, including ASA. GARD also provides links to scientific articles, clinical trials, and other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the National Organization for Rare Disorders (NORD).

GARD is an essential resource for individuals seeking information on rare diseases like ASA. Its comprehensive and reliable information can support patients, families, and healthcare providers in understanding the condition and navigating available resources.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance and guidance to individuals with argininosuccinic aciduria. These resources are aimed at ensuring that patients and their families receive the necessary support, information, and resources to effectively manage the condition and improve quality of life.

One of the key organizations providing support and advocacy for patients with argininosuccinic aciduria is the National Organization for Rare Disorders (NORD). NORD is dedicated to helping individuals and families affected by rare diseases like argininosuccinic aciduria by providing resources, advocacy, and support. They offer a comprehensive website with information about the condition, research updates, and patient assistance programs.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for individuals with argininosuccinic aciduria. GARD provides up-to-date and reliable information about the condition, including its causes, symptoms, diagnosis, and treatment options. They also offer a directory of genetic and rare disease support groups, clinical trials, and research organizations.

For more specific information on the genetic aspects of argininosuccinic aciduria, patients and their families can consult OMIM (Online Mendelian Inheritance in Man) and GeneReviews. OMIM provides detailed information on the genetic causes, inheritance pattern, and associated genes for various diseases, including argininosuccinic aciduria. GeneReviews offers in-depth clinical summaries, genetic testing information, and resources for healthcare providers and patients.

Additional patient support and advocacy resources include the Acidemia and Other Organic Acid Disorders (AOD) Family Support Group, which provides a platform for individuals and families affected by various organic acid disorders, including argininosuccinic aciduria, to connect, share experiences, and access support. The University of Adam provides comprehensive information on the condition, including its symptoms, diagnosis, and management strategies.

Patients and their families can also find valuable information through scientific articles and research studies. PubMed is a searchable database that contains a vast collection of scientific articles on various diseases, including argininosuccinic aciduria. ClinicalTrials.gov offers information on ongoing clinical trials that may be relevant to patients with this condition. The Metabolic Support UK provides information and support for individuals and families affected by metabolic conditions, including argininosuccinic aciduria.

In conclusion, patients with argininosuccinic aciduria can benefit greatly from the support and advocacy resources available to them. These resources provide crucial information, assistance, and support necessary for patients and their families to effectively manage the condition and improve their quality of life.

Research Studies from ClinicalTrialsgov

Research studies and articles conducted by ClinicalTrialsgov provide valuable information about argininosuccinic aciduria and its associated symptoms, causes, and treatment options. These studies play a crucial role in advancing scientific knowledge and improving patient care for this rare genetic condition.

Argininosuccinic aciduria is an autosomal recessive disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is necessary for the breakdown of argininosuccinic acid during the urea cycle, a process that converts toxic ammonia into urea for excretion in the urine. Without this enzyme, argininosuccinic acid accumulates in the body, leading to a range of symptoms and complications.

ClinicalTrialsgov provides a comprehensive catalog of research studies related to argininosuccinic aciduria. These studies investigate various aspects of the condition, including its genetic basis, laboratory testing, frequency, associated genes, and clinical manifestations. The information gained from these studies helps researchers learn more about the condition and develop new diagnostic and treatment approaches.

Patients and their families can benefit from the resources available on ClinicalTrialsgov. The platform offers information on ongoing research studies, access to clinical trials, and patient advocacy organizations. These resources can provide additional support and information, helping patients make informed decisions about their healthcare journey.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for individuals and families affected by argininosuccinic aciduria. GARD provides comprehensive information on the condition, including causes, symptoms, inheritance patterns, and available treatment options. The center also offers resources for finding clinical trials and genetic testing centers.

See also  Andermann syndrome

Research studies on argininosuccinic aciduria have been published in scientific journals and can be found on PubMed, a database of biomedical literature. These articles provide detailed information on the latest discoveries and advancements in the field, contributing to the overall understanding of the condition.

Genetests and OMIM (Online Mendelian Inheritance in Man) are additional resources for learning about the genes associated with argininosuccinic aciduria, as well as other related genetic conditions. These platforms provide curated information on genetic disorders, including their symptoms, inheritance patterns, and available testing options.

Overall, the research studies and resources available from ClinicalTrialsgov and other platforms are invaluable for advancing scientific knowledge, improving patient care, and advocating for individuals and families affected by argininosuccinic aciduria. Continued research and collaboration are essential for understanding this rare condition and developing more effective treatments.

Catalog of Genes and Diseases from OMIM

Argininosuccinic aciduria is a rare genetic condition associated with a deficiency of the enzyme argininosuccinate lyase. This condition affects the urea cycle, a metabolic pathway that breaks down excess nitrogen in the body, specifically the amino acid arginine. Without the proper functioning of this enzyme, argininosuccinic acid can build up in the blood and urine, leading to a variety of symptoms and complications.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on the genetic basis of human diseases. It catalogs various genes and diseases, including argininosuccinic aciduria, and offers valuable resources for scientific studies and clinical observations.

Genes Associated with Argininosuccinic Aciduria

The gene responsible for causing argininosuccinic aciduria is the ARG1 gene, which encodes the enzyme arginase-1. This enzyme is involved in the final step of the urea cycle, converting arginine into urea and ornithine.

Frequency and Inheritance

Argininosuccinic aciduria is a rare autosomal recessive condition, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The frequency of this condition varies among different populations, with estimates ranging from 1 in 70,000 to 1 in 218,500 individuals.

Clinical Features

  • Elevated levels of argininosuccinic acid in the urine
  • Hyperammonemia, a toxic buildup of ammonia in the blood
  • Neurological symptoms, such as intellectual disability, seizures, and developmental delay
  • Liver dysfunction
  • Growth failure
  • Metabolic acidosis
  • Excessive ammonia in the breath or sweat

Diagnosis and Testing

Diagnosis of argininosuccinic aciduria is typically confirmed through biochemical testing, which includes measuring levels of argininosuccinic acid in urine or blood. Genetic testing can also be performed to identify mutations in the ARG1 gene.

Treatment and Management

Treatment for argininosuccinic aciduria primarily involves a low-protein diet and the use of supplements to provide essential amino acids. Medications may be prescribed to reduce ammonia levels in the blood. Regular monitoring and management of symptoms is crucial to prevent complications and maintain overall health.

Additional Resources

For more information on argininosuccinic aciduria, the following resources may be helpful:

  • OMIM: Provides detailed information on the genetics and clinical features of argininosuccinic aciduria. (OMIM ID: 207900)
  • GARD (Genetic and Rare Diseases) Information Center: Offers comprehensive resources and support for individuals and families affected by rare genetic conditions.
  • ARG1 Deficiency: A comprehensive review on argininosuccinic aciduria published in GeneReviews®, a scientific resource for clinicians and researchers.
  • NORD (National Organization for Rare Disorders): Provides advocacy, support, and resources for individuals with rare diseases and their families.

References

1. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/

2. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK333457/

3. GARD (Genetic and Rare Diseases) Information Center. Retrieved from https://rarediseases.info.nih.gov/

4. NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to argininosuccinic aciduria and other rare diseases. Through PubMed, researchers and healthcare professionals can access a wide range of clinical studies and research papers that provide important information about the condition.

Argininosuccinic aciduria is a rare genetic disorder associated with a deficiency of the enzyme argininosuccinate lyase. This enzyme is responsible for breaking down argininosuccinic acid, a compound in the urea cycle that is converted into arginine.

The condition is usually detected in infancy or early childhood when symptoms such as developmental delay, seizures, and vomiting become apparent. Without proper treatment, argininosuccinic aciduria can lead to severe neurological complications and even death.

The inheritance pattern for argininosuccinic aciduria is autosomal recessive, meaning that both parents must carry a mutated gene in order for their child to develop the condition. Genetic testing can help identify carrier status and enable couples to make informed decisions about family planning.

The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the genes involved in argininosuccinic aciduria and additional associated symptoms. The ARG1 and ASL genes are the most commonly affected in this condition.

The University of Groningen and the Genetic and Rare Diseases (GARD) Information Center offer resources and support for patients and their families. These organizations provide information about the condition, including treatment options, clinical trials, and advocacy groups.

Scientific articles on PubMed provide additional information about argininosuccinic aciduria, including research studies, case reports, and clinical trials. Researchers can learn more about the frequency of the condition, diagnostic testing, and potential treatment options.

The Adam MP et al. 2019 review in GeneReviewsr provides a comprehensive overview of argininosuccinic aciduria, including clinical features, genetic testing, and management strategies.

By consulting the scientific articles available on PubMed, researchers can stay up to date with the latest advancements in the field of argininosuccinic aciduria and contribute to ongoing research efforts aimed at improving diagnosis, treatment, and support for affected individuals.

References:

  • Argininosuccinic Aciduria – PubMed
  • OMIM – Argininosuccinic Aciduria
  • Genetic and Rare Diseases Information Center – Argininosuccinic Aciduria
  • GeneReviewsr – Argininosuccinic Aciduria

References

Related Posts