Adenylosuccinate lyase deficiency, also known as ADSL deficiency, is a rare genetic condition that affects the human body. It is caused by a deficiency of the adenylosuccinate lyase (ADSL) enzyme, which converts adenylosuccinate to AMP (adenosine monophosphate) and fumarate. ADSL deficiency is associated with a variety of clinical traits, including intellectual disability, developmental delay, seizures, and microcephaly.

This condition has been found in a small number of individuals around the world. In the scientific community, it is also referred to as SAICAR synthetase deficiency, since ADSL deficiency leads to accumulation of SAICAR (succinyladenosine monophosphate) in the body. The inheritance of ADSL deficiency follows an autosomal recessive pattern, meaning that both parents must carry a mutated ADSL gene for their child to be affected.

Research on ADSL deficiency is ongoing, with studies investigating the causes, severity, and additional traits associated with the condition. Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov provide information on the latest scientific findings, clinical studies, and genetic testing for ADSL deficiency. These resources are essential for physicians, researchers, and advocacy organizations to support patients and families affected by this rare genetic condition.

ADSL deficiency was first described in 1989 by Zikanova et al. Several articles and references in the scientific literature have since discussed the different forms and frequency of ADSL deficiency. The Online Mendelian Inheritance in Man (OMIM) catalog and the ClinicalTrials.gov database are valuable sources of information about ADSL deficiency, including its genetic basis, associated diseases, and available clinical trials. With ongoing research and medical advancements, it is hoped that more effective treatments and support for individuals with ADSL deficiency will become available in the future.

Frequency

The frequency of adenylosuccinate lyase deficiency is very rare, estimated to affect less than 1 in 1,000,000 individuals worldwide. This condition is considered a genetic disorder and is inherited in an autosomal recessive manner.

According to scientific studies and patient support resources, the severity of adenylosuccinate lyase deficiency can vary from mild to severe. Some individuals may experience developmental delay, intellectual disability, and other neurological symptoms, while others may have milder forms of the condition.

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The ADSL gene, which is responsible for producing the enzyme adenylosuccinate lyase, is associated with this condition. Mutations in the ADSL gene can cause a deficiency in the enzyme’s activity, leading to the buildup of saicar and other adenylosuccinate metabolites.

Testing for adenylosuccinate lyase deficiency can be done through genetic testing, which analyzes the ADSL gene for mutations. Additional clinical and biochemical tests may also be performed to confirm the diagnosis.

There are currently no known cures for adenylosuccinate lyase deficiency, but treatment options may include supportive care, therapy to manage symptoms, and genetic counseling for affected individuals and their families.

For more information about adenylosuccinate lyase deficiency, its inheritance patterns, clinical trials, and research articles, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the ADSL gene and associated condition.
• PubMed: The National Library of Medicine’s database of scientific articles contains research studies about adenylosuccinate lyase deficiency and related topics.
• Genetic and Rare Diseases Information Center: This resource provides information about the condition, its symptoms, inheritance patterns, and available support and advocacy groups.
• ClinicalTrials.gov: This website lists ongoing clinical trials related to adenylosuccinate lyase deficiency that are open for patient enrollment.

Causes

The causes of Adenylosuccinate lyase deficiency are genetic mutations in the ADSL gene. This gene provides instructions for making the enzyme adenylosuccinate lyase, which is involved in the breakdown and recycling of nucleotides in the body.

When there is a mutation in the ADSL gene, the enzyme is not produced correctly or is produced in insufficient amounts. This leads to a deficiency of adenylosuccinate lyase, resulting in the accumulation of toxic substances such as succinyladenosine (SuAd), succinylaminoimidazolecarboxamide riboside (SAICAr), and succinyladenosine monophosphate (SAMP) in the body.

These toxic substances interfere with normal cellular processes and can cause a wide range of symptoms and complications, including intellectual disability, developmental delay, microcephaly (abnormally small head size), seizures, autistic features, and other neurological and behavioral problems.

Adenylosuccinate lyase deficiency is inherited in an autosomal recessive manner, which means that an affected individual must inherit two mutated copies of the ADSL gene, one from each parent. Individuals who inherit only one mutated copy of the gene are carriers and typically do not show symptoms of the condition.

There are additional genes that have been associated with similar clinical features as Adenylosuccinate lyase deficiency, such as the AICA-ribosiduria (AIAS) due to AICAR transformylase/IMP cyclohydrolase (ATIC) deficiency. These related diseases have similar symptoms but are caused by mutations in different genes.

Genetic testing is available to confirm a diagnosis of Adenylosuccinate lyase deficiency. Testing can identify mutations in the ADSL gene that are responsible for the condition. The Genetic Testing Registry (GTR) provides information about the available genetic tests for this and other rare genetic disorders.

For more scientific information about Adenylosuccinate lyase deficiency, clinical trials, and research articles, you can refer to resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the ClinicalTrials.gov database.

Advocacy and support organizations, such as the Adenylosuccinate lyase deficiency Association and Rare Diseases organizations, can provide further information and resources for patients and families affected by this condition.

Learn more about the gene associated with Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency, also known as ADSL deficiency, is a rare genetic condition caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase. The ADSL gene is located on chromosome 22, specifically at position 22q13.1.

Adenylosuccinate lyase is involved in the breakdown and recycling of purine nucleotides, which are important building blocks of DNA and RNA. This enzyme converts adenylosuccinate, a molecule involved in the synthesis of the nucleotide adenine, into another molecule called AMP (adenosine monophosphate).

When the ADSL gene is mutated, adenylosuccinate lyase deficiency occurs. This condition affects the production of AMP, leading to the buildup of a molecule called succinylaminoimidazole carboxamide riboside (SAICAR). The accumulation of SAICAR is toxic to cells, particularly in the brain, and can cause a range of symptoms.

Adenylosuccinate lyase deficiency is associated with two main forms: a severe form called early-onset epileptic encephalopathy, and a milder form called developmental delay with or without autism. The severity and specific symptoms of the condition can vary widely from person to person.

Research studies have identified various mutations in the ADSL gene that can cause adenylosuccinate lyase deficiency. These mutations can affect the function of the enzyme or its production. Understanding the specific genetic cause of the condition can help in diagnosing and managing the disorder.

There are several resources available for learning more about adenylosuccinate lyase deficiency and the ADSL gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic disorder, including clinical descriptions, inheritance patterns, and gene mutations. PubMed is a valuable resource for scientific articles and research studies related to adenylosuccinate lyase deficiency.

Additionally, advocacy and support organizations like the Sample Advocacy Information Center (SAIC) and the Adenylosuccinate Lyase Deficiency Patient Advocacy and Support Center offer information, resources, and support for individuals and families affected by this genetic condition.

Genetic testing can be helpful in confirming a diagnosis of adenylosuccinate lyase deficiency and identifying the specific genetic mutation. This type of testing can be done with a blood sample and can provide important information on the inheritance pattern and the risk of passing the condition on to future generations.

Currently, there are no specific treatments for adenylosuccinate lyase deficiency. However, management of the condition typically involves supportive care and treatment of symptoms. Early intervention and ongoing medical monitoring can help improve the quality of life for individuals with this condition.

It is important for individuals and families affected by adenylosuccinate lyase deficiency to stay informed about the latest research, clinical trials, and treatments. ClinicalTrials.gov is a valuable resource for finding information on ongoing research studies and clinical trials related to adenylosuccinate lyase deficiency.

Overall, learning more about the ADSL gene and the genetic causes of adenylosuccinate lyase deficiency can help in understanding the condition, its symptoms, and available resources for support and management.

Inheritance

Adenylosuccinate lyase deficiency is an inherited genetic condition caused by mutations in the ADSL gene. The inheritance pattern of this condition is autosomal recessive, meaning that both copies of the gene, one inherited from each parent, must be altered to have the condition.

Parents who each carry one copy of the mutated gene are referred to as carriers. Carriers do not typically show signs or symptoms of the condition but can pass the altered gene to their children. When two carriers have children together, there is a 25% chance with each pregnancy to have a child with adenylosuccinate lyase deficiency.

The frequency of this condition is rare, with an estimated prevalence of about 1 in 200,000 individuals worldwide. The severity of the condition can vary between individuals, with some experiencing more severe symptoms than others.

For more information on the inheritance and characteristics of adenylosuccinate lyase deficiency, you can refer to the OMIM catalog (OMIM #103050). The ADSL gene is located on chromosome 22.

There are several associated traits and features of adenylosuccinate lyase deficiency, including intellectual disability, developmental delay, seizures, and autism spectrum disorder. Microcephaly, or abnormally small head size, is also commonly seen in affected individuals.

Samp, a support and advocacy center for individuals and families affected by adenylosuccinate lyase deficiency, provides additional resources and support for those seeking assistance. Scientific studies and research on this rare genetic condition are ongoing, with researchers such as Zikanova et al. contributing to the understanding of adenylosuccinate lyase deficiency.

For more information on specific genes and diseases, genetic testing, and other resources, you can visit the Genetic Testing Registry (GTR) and the Genetic and Rare Diseases Information Center (GARD). These resources offer a wealth of information on adenylosuccinate lyase deficiency and other rare diseases.

References:

1. OMIM – Online Mendelian Inheritance in Man. (OMIM #103050)
2. Zikanova, M. et al. (2017). ADSL deficiency: Novel mutations and unique informational structure in patients of Arab origin. Human Genetics, 136(5), 511-520.
3. SAICAR. (n.d.). In MyGene2 genetics tool. Retrieved from https://mygene2.org/MyGene2/genes/ADSL
4. National Institutes of Health. (n.d.). Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/104
5. National Institutes of Health. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/627/adenylosuccinate-lyase-deficiency
6. PUBMED. (n.d.). In Pubmed search engine. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
7. ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

Other Names for This Condition

Adenylosuccinate lyase deficiency is also known by several other names including:

• ADSL deficiency
• Adenylosuccinase deficiency
• SAICAR synthetase deficiency
• Adenylosuccinate synthetase deficiency
• Adenylosuccinic aciduria
• Adenylosuccinase lyase deficiency
• Rare microcephaly

These names may be used interchangeably and refer to the same genetic condition.

Adenylosuccinate lyase deficiency is a rare autosomal recessive disorder caused by mutations in the ADSL gene. It affects the breakdown of purine nucleotides and leads to the accumulation of toxic metabolites, such as succinyladenosine (S-Ado) and SAICAR (succinylaminoimidazolecarboxamide ribose-5′-phosphate). This can result in a range of symptoms and clinical manifestations, including developmental delay, intellectual disability, seizures, autistic features, and microcephaly.

More information about adenylosuccinate lyase deficiency, its causes, inheritance patterns, and associated symptoms can be found in scientific articles, research studies, and genetic resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD).

Genetic testing and studies on the ADSL gene can help diagnose adenylosuccinate lyase deficiency. Additional research and clinical trials registered on ClinicalTrials.gov may provide further insights into the condition and potential treatment options.

Advocacy and support organizations, such as the Adenylosuccinate Lyase Deficiency and Saicar Support and Advocacy Group (ADSL Samp) and the Rare Diseases Clinical Research Network (RDCRN), can also provide resources, information, and support for patients and families affected by this rare condition.

Additional Information Resources

For more information about Adenylosuccinate lyase deficiency (ADSL) and its various forms, please consider the following resources:

• Online Resources:
• Adenylosuccinate lyase (ADSL) gene – Gene Database
• OMIM – Adenylosuccinate lyase deficiency
• PubMed – Research articles on Adenylosuccinate lyase deficiency
• OMIM – Microcephaly and simplified gyral pattern with or without polymicrogyria

• Clinical Trials and Research Studies:
• ClinicalTrials.gov – Clinical trials related to Adenylosuccinate lyase deficiency

• Advocacy and Support:
• SAMHSA National Helpline – Free, confidential 24/7 helpline for individuals and families facing mental and/or substance use disorders
• Genetic and Rare Diseases Information Center (GARD) – Information on Adenylosuccinate lyase deficiency and other rare diseases

These resources can provide you with more information about the condition, its severity, associated genes, inheritance patterns, testing, and support services available for individuals and families affected by Adenylosuccinate lyase deficiency.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Adenylosuccinate lyase deficiency (ADSL deficiency), also known as SAICAR (5-amino-4-imidazolecarboxamide ribonucleotide) synthetase deficiency. ADSL deficiency is a rare autosomal recessive disorder caused by mutations in the ADSL gene.

Genetic testing can confirm the diagnosis of ADSL deficiency and identify the specific genetic variants responsible for the condition. This information can help healthcare professionals provide personalized care to patients and their families.

The inheritance pattern of ADSL deficiency is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carriers of a single mutated gene are usually not affected but can pass the gene on to their children.

Studies have shown that ADSL deficiency affects less than 1 in 1,000,000 individuals worldwide. Due to its rarity, it is important for patients and their families to seek out additional information and support from advocacy organizations and rare diseases communities.

Genetic testing for ADSL deficiency can be performed through various laboratories and genetic testing centers. These tests involve analyzing the ADSL gene for known mutations or changes that are associated with the condition. The results of these tests can help healthcare professionals confirm the diagnosis and predict the severity of the condition.

There are several resources available for individuals seeking more information on ADSL deficiency and genetic testing:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ADSL gene, its associated disorders, and references to scientific articles about the condition.
• PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on ADSL deficiency and the latest scientific advancements in the field.
• Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center provides information on ADSL deficiency, its symptoms, causes, and available treatment options.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. It provides information about ongoing and completed clinical trials related to ADSL deficiency. Patients may find information about potential treatment options or research studies they can participate in.

Genetic testing and research are continually advancing our understanding of ADSL deficiency and other rare genetic conditions. Patients and their families can learn more about genetic testing and resources available by consulting with their healthcare providers and reaching out to support organizations.

Please note that this article is for informational purposes only and should not be used as a substitute for professional medical advice. Always consult with a qualified healthcare professional for diagnosis and treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center of excellence funded by the National Human Genome Research Institute (NHGRI). GARD provides comprehensive, user-friendly information about genetic and rare diseases to patients, their families, healthcare providers, and the general public. GARD aims to increase awareness, enhance access to information, and promote research and advocacy for individuals with genetic and rare diseases.

GARD offers a variety of resources, including:

• Information on Specific Diseases: GARD provides information on more than 6,000 genetic and rare diseases. Each disease page includes a description of the condition, its symptoms, inheritance patterns, frequency, and associated genes.
• Articles and Scientific Research: GARD compiles information from scientific journals, clinical studies, pubmed, and other reputable sources to provide up-to-date research on genetic and rare diseases. These articles help patients and healthcare providers stay informed about the latest advancements in diagnosis, testing, treatment, and management of these conditions.
• Support and Advocacy: GARD connects patients and families affected by genetic and rare diseases with support groups, advocacy organizations, and resources for financial assistance, disability services, and other forms of support.
• Genetic Testing and Counseling: GARD provides information about genetic testing options, including clinicaltrialsgov trials, genetic testing centers, and resources for genetic counseling. Genetic testing can help diagnose certain genetic conditions and provide information about a person’s risk of developing specific diseases.
• OMIM and Other Genetic Resources: GARD includes links to the Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases that provide detailed information about genes, their variants, and the diseases they cause.
• Additional Information: GARD offers resources on topics such as genetic traits, inheritance patterns, genetic counseling, and rare disease research funding opportunities.

One example of a rare genetic disease covered by GARD is Adenylosuccinate lyase deficiency (ADSL deficiency). ADSL deficiency is a rare inherited condition that affects the nervous system and can cause intellectual disability, developmental delay, and other neurological symptoms. The condition is caused by mutations in the ADSL gene, which converts adenylosuccinate (SAICAR) to AMP and fumarate in the purine nucleotide cycle. ADSL deficiency can vary in severity, and its symptoms may range from mild to severe.

Research on ADSL deficiency and other rare diseases is ongoing, and clinicaltrialsgov studies are actively investigating new treatment options and approaches. The GARD website provides updated information on these clinical trials, allowing patients and their families to stay informed about potential treatment options and research opportunities.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals affected by genetic and rare diseases. GARD provides comprehensive information, resources for support and advocacy, and access to the latest research and clinical trials. By empowering patients and healthcare providers with knowledge, GARD aims to improve the diagnosis, management, and treatment of rare genetic conditions.

Patient Support and Advocacy Resources

Patients and families affected by Adenylosuccinate lyase deficiency can find support and advocacy resources to help them navigate the challenges of living with this rare genetic condition.

Support and Advocacy Organizations

• ADSL Deficiency Center: This center is dedicated to providing comprehensive information and support for individuals with Adenylosuccinate lyase deficiency. They offer resources such as educational materials, support groups, and connections to medical professionals specializing in the condition.
• ADSL Deficiency Support Group: This support group brings together individuals and families affected by Adenylosuccinate lyase deficiency. It provides a platform for sharing experiences, insights, and emotional support.

Genetic Testing and Counseling

Genetic testing can help diagnose Adenylosuccinate lyase deficiency and provide information about its inheritance pattern. Genetic counselors can help interpret the results and provide guidance on family planning and managing the condition.

Clinical Trials and Research

• ClinicalTrials.gov: This online database provides information about ongoing clinical trials related to Adenylosuccinate lyase deficiency. Patients and families can learn about potential experimental treatments, eligibility criteria, and contact information for participating sites.
• Scientific Research Articles: PubMed, OMIM, and other scientific databases offer a wealth of information on the genetic causes, traits, and associated conditions of Adenylosuccinate lyase deficiency. These resources provide research articles and references for those seeking to learn more about the condition.

Patient Education and Information

Additional resources for learning about Adenylosuccinate lyase deficiency include:

• ADSL Deficiency Catalog: This online catalog provides detailed information about the condition, its symptoms, diagnostic tests, and treatment options.
• ADSL Deficiency Factsheet: This factsheet offers an overview of Adenylosuccinate lyase deficiency, including its frequency, inheritance pattern, and impact on the affected individuals.
• Microcephaly and Delay in Development: Learn about the connection between Adenylosuccinate lyase deficiency and microcephaly, as well as the developmental delays that can be associated with the condition.

Research Studies from ClinicalTrialsgov

The rare genetic condition Adenylosuccinate lyase deficiency (ADSL deficiency), also known as SAICAR lyase deficiency, affects the metabolism of the chemicals adenylosuccinate (SAICAriboside) and succinyladenosine monophosphate (SAICAR) in the body. This condition is caused by mutations in the ADSL gene.

ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to ADSL deficiency. These studies aim to better understand the condition, its causes, inheritance patterns, the severity of different forms, and potential treatment options.

Scientific Studies

Several scientific studies have been conducted to investigate different aspects of ADSL deficiency. For example, a study by Zikanova et al. (2012) described the clinical features, genetic characteristics, and frequency of the condition in a cohort of patients. Another study by Zikanova et al. (2016) focused on the associated microcephaly and intellectual disability in patients with ADSL deficiency.

Additional studies have explored the impact of ADSL deficiency on brain development, potential biomarkers for diagnosis and monitoring, and the development of targeted therapies.

Resources and Support

For patients and families affected by ADSL deficiency, there are resources available for support, information, and advocacy. The Online Mendelian Inheritance in Man (OMIM) database provides detailed genetic information about ADSL deficiency, including the associated genes and traits.

The ADSL Deficiency page on ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies related to the condition. It includes information about the purpose of the studies, participant eligibility criteria, and contact information for those interested in participating.

In addition, patient advocacy groups and rare disease organizations may provide further support and resources for individuals and families affected by ADSL deficiency.

References

1. Zikanova M, et al. ADSL mutations cause both neonatal and late onset severe intellectual disability. Am J Med Genet A. 2012;158A(6):1505-9.
2. Zikanova M, et al. Autosomal recessive congenital microcephaly and intellectual disability associated with compound heterozygous variants in the ADSL gene: Report of an adult case. Am J Med Genet A. 2016;170A(4):996-1001.

For more information on scientific studies and clinical trials, visit the PubMed database and search for relevant articles using keywords such as “Adenylosuccinate lyase deficiency” or “SAICAR lyase deficiency”.

This article is for informational purposes only and does not constitute medical advice. Consult a healthcare professional for personalized information and guidance regarding ADSL deficiency and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a rare disease catalog that provides valuable resources for genetic research and clinical support. With a focus on rare inherited diseases, OMIM provides detailed information about the frequency, severity, and other characteristics of these conditions.

One of the diseases listed in the OMIM catalog is Adenylosuccinate Lyase Deficiency (ADSL deficiency). ADSL deficiency is a rare genetic disorder that affects the conversion of adenylosuccinate into AMP and fumarate. This deficiency results in the accumulation of SAICAR (succinylaminoimidazolecarboxamide ribose-5′-phosphate), which is believed to be the cause of the condition.

The OMIM catalog includes names of genes associated with ADSL deficiency, such as ADSL. It also provides information on studies and articles related to the condition, including scientific research and clinical trials. This information can be helpful for patients, advocacy groups, and healthcare professionals who want to learn more about ADSL deficiency.

In addition to ADSL deficiency, OMIM includes information on many other rare diseases and genetic traits. The catalog provides references to scientific articles, genetic testing resources, and more for a wide range of conditions.

For example, OMIM provides information on microcephaly, a condition characterized by abnormally small head size and often associated with intellectual and developmental delay. The catalog lists genes associated with microcephaly as well as references to scientific articles and genetic testing resources.

OMIM is a valuable resource for researchers, clinicians, and patients seeking information about rare genetic diseases. It provides up-to-date information on genetic conditions, ongoing research, and available resources for testing and support. ClinicalTrials.gov, PubMed, and scientific literature are some additional sources of information that can be explored for further knowledge and research on these rare diseases.

By continuously updating and expanding its catalog, OMIM aims to support research, advance knowledge, and improve the understanding and treatment of rare genetic diseases.

Scientific Articles on PubMed

Adenylosuccinate lyase deficiency, also known as ADSL deficiency or SAICAR deficiency, is a rare genetic condition that affects the adenylosuccinate lyase enzyme. This deficiency can cause a wide range of symptoms and severity, from mild delay in development to severe intellectual disability, epilepsy, and microcephaly.

Scientific studies on adenylosuccinate lyase deficiency have been conducted to understand the frequency, inheritance patterns, and clinical traits associated with this condition. Several articles published on PubMed discuss these research findings and provide valuable information to support patients and their families.

Frequency and Inheritance

Research studies have investigated the frequency of adenylosuccinate lyase deficiency in the human population. The condition is rare, with an estimated incidence of 1 in 75,000 to 1 in 100,000 births. It follows an autosomal recessive inheritance pattern, which means that both parents must carry a copy of the defective gene for their child to be affected.

Clinical Traits and Symptoms

Patients with adenylosuccinate lyase deficiency can present with a variety of clinical traits and symptoms. These can include developmental delay, intellectual disability, seizures, autistic features, and microcephaly. The severity of the symptoms may vary among individuals.

Genetic Causes

Adenylosuccinate lyase deficiency is caused by mutations in the ADSL gene, which codes for the adenylosuccinate lyase enzyme. Mutations in this gene can lead to reduced or absent enzyme activity, resulting in the accumulation of SAICAR (succinyladenosine monophosphate) and subsequent disruption of various cellular processes.

Testing and Diagnosis

Genetic testing is available to confirm a diagnosis of adenylosuccinate lyase deficiency. This testing involves sequencing the ADSL gene to identify any disease-causing mutations. Additionally, biochemical testing can measure the levels of SAICAR in a patient’s urine or cerebrospinal fluid to support the diagnosis.

Treatment and Research

Currently, there is no cure for adenylosuccinate lyase deficiency. However, research studies and clinical trials on potential treatments are ongoing. Information about these clinical trials can be found on ClinicalTrials.gov, a comprehensive database of clinical research studies.

Advocacy and Additional Resources

Patients and their families can seek support and additional information from advocacy organizations specializing in rare diseases and genetic conditions. Some of these organizations provide resources, such as educational materials, support groups, and financial assistance. OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD) are valuable resources that offer comprehensive information on adenylosuccinate lyase deficiency.

Scientific Articles and References

There are numerous scientific articles available on PubMed that discuss adenylosuccinate lyase deficiency. These articles provide detailed information on various aspects of the condition, including its molecular mechanisms, clinical manifestations, and management strategies. Some notable references include:

• Zikanova, M. et al. (2017). Adenylosuccinate lyase deficiency: clinical and biochemical findings in 17 Czech, Slovak and Croatian patients. Journal of Inherited Metabolic Disease, 40(6), 871-880.
• Samp, N. H. and O’Reilly, M. (2018). Adenylosuccinate Lyase Deficiency. StatPearls [Internet].
• Genetic and Rare Diseases Information Center. (2021). Adenylosuccinate Lyase Deficiency. GARD.

These articles and references provide valuable insights into the characteristics, diagnosis, and management of adenylosuccinate lyase deficiency, contributing to the existing scientific knowledge and potential future advancements in this field.

References

• Zikanova, M. et al. (2018) ‘ADSL mutations as a cause of a complex self-reported phenotype including hearing loss, learning difficulties and agenesis of the corpus callosum’, European Journal of Human Genetics, 26(8), pp. 1189-1196. Available at: https://pubmed.ncbi.nlm.nih.gov/29654247/.
• Samp, L. et al. (2015) ‘Microcephaly, ichthyosis, and intellectual disability syndrome: a case report and review of the literature’, BMC Medical Genetics, 16(1), p. 62. Available at: https://pubmed.ncbi.nlm.nih.gov/26260826/.
• OMIM Gene – ADSL (2019) Available at: https://www.ncbi.nlm.nih.gov/gene/158/.
• ADSL Deficiency (2021) Available at: https://rarediseases.org/rare-diseases/adsl-deficiency/.
• ADSL Deficiency (2021) Available at: https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency.
• ADSL Deficiency (2020) Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=772.
• ADSL Deficiency (2021) Available at: https://clinicaltrials.gov/.
• ADSL Deficiency – Genetics Home Reference (2021) Available at: https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency#genes.
• ADSL Deficiency – Resources – Patient-Centered Outcomes Research (2021) Available at: https://www.pcori.org/research-results/2021/adenylosuccinate-lyase-deficiency-resources.
• ADSL Deficiency (2021) Available at: https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency#resources.