Adenine Phosphoribosyltransferase (APRT) deficiency, also known as 28-dha deficiency, is a rare genetic disorder that affects the conversion of adenine to 28-dihydroxyladenine (28-dha) in the body. This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the faulty gene, one from each parent, in order to develop the disease.

Patients with APRT deficiency often experience symptoms related to urinary tract problems, such as kidney stones, urinary tract infections, and blood in the urine. These symptoms can occur at any age, though they are more commonly observed in adulthood. In addition to kidney problems, other associated symptoms may include recurring abdominal pain and muscle weakness.

This condition is so rare that there are limited resources and research articles available on it. However, there are scientific studies, PubMed articles, and other references that provide more information about APRT deficiency. The OMIM catalog and ClinicalTrials.gov are useful resources for learning about the genetic causes, clinical studies, and available genetic testing options for this condition.

Support and advocacy organizations centered around rare genetic diseases can also provide valuable information and support for patients and their families affected by APRT deficiency. These organizations can help patients find additional resources, connect with other individuals or families affected by the condition, and provide guidance on managing symptoms and seeking appropriate medical care.

Frequency

The frequency of adenine phosphoribosyltransferase deficiency is not well-established. This rare genetic disease is estimated to affect approximately 1 in 140,000 individuals worldwide.

Adenine phosphoribosyltransferase deficiency is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated in order for the condition to occur. The responsible gene for this condition is APRT, and mutations in this gene result in a deficiency of the enzyme APRT, which is responsible for the conversion of adenine to AMP.

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Due to the rarity of this condition, there is limited scientific research and resources available. However, there are a few studies and clinical trials registered on ClinicalTrials.gov, which aim to further understand this condition and explore potential treatments.

Patients with adenine phosphoribosyltransferase deficiency may experience a range of symptoms, including urinary tract problems, kidney stones, and kidney damage. Some individuals may not experience any symptoms until adulthood.

For more information about adenine phosphoribosyltransferase deficiency, you can visit the OMIM catalog of genetic diseases or consult with a genetic counselor or a healthcare professional. There are also advocacy and support groups available that can provide additional resources and support for individuals and families affected by this rare genetic disease.

References:

• OMIM. Entry #614723. Adenine phosphoribosyltransferase deficiency. Available from: https://omim.org/entry/614723
• PubMed. Adenine phosphoribosyltransferase deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=adenine+phosphoribosyltransferase+deficiency
• ClinicalTrials.gov. Search results for adenine phosphoribosyltransferase deficiency. Available from: https://clinicaltrials.gov/ct2/results?cond=adenine+phosphoribosyltransferase+deficiency

Causes

Adenine phosphoribosyltransferase deficiency is a rare genetic condition that affects the conversion of adenine to adenosine monophosphate (AMP). It is caused by mutations in the APRT gene, which encodes the enzyme adenine phosphoribosyltransferase.

Adenine phosphoribosyltransferase deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the APRT gene – one from each parent – to develop the condition.

The APRT gene is responsible for producing the enzyme adenine phosphoribosyltransferase, which is involved in the recycling of purines in the body. Purines are essential building blocks of DNA and RNA, and they are also found in certain foods.

In individuals with adenine phosphoribosyltransferase deficiency, the inability to convert adenine to AMP leads to the buildup of a compound called 2,8-dihydroxyadenine (DHA). DHA is insoluble in water and can form crystals that can accumulate in the kidneys and urinary tract, leading to urinary tract problems and kidney damage.

The frequency of adenine phosphoribosyltransferase deficiency is rare, with an estimated incidence of 1 in 100,000 to 1 in 1,000,000 individuals. The condition is more common in certain populations, such as those of Japanese descent.

Research and scientific studies have provided additional information on the causes and inheritance of adenine phosphoribosyltransferase deficiency. Genetic testing can be done to confirm the diagnosis and identify specific mutations in the APRT gene.

References to learn more about the causes and symptoms of adenine phosphoribosyltransferase deficiency can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide comprehensive information, clinical trials, and articles for advocacy and support.

Learn more about the gene associated with Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency is a rare autosomal genetic condition that affects the function of the APRT gene. This gene provides instructions for making the enzyme adenine phosphoribosyltransferase, which is involved in the conversion of adenine, a component of DNA, to a substance called AMP.

Individuals with Adenine phosphoribosyltransferase deficiency have a mutation in the APRT gene, which leads to a reduced or absent enzyme activity. This results in a buildup of adenine in the body and the formation of urinary 2,8-dihydroxyadenine (2,8-DHA) crystals, which can cause kidney stones and other urinary tract problems.

There are several resources available to learn more about Adenine phosphoribosyltransferase deficiency and the gene associated with it:

• The Genetic and Rare Diseases Information Center provides information on this condition, including its symptoms, inheritance patterns, and frequency.
• PubMed and OMIM are scientific databases that contain articles and research studies on Adenine phosphoribosyltransferase deficiency and related genetic diseases. These resources can provide more in-depth information on the condition and the underlying genetic causes.
• ClinicalTrials.gov lists ongoing clinical trials and research studies that are focused on Adenine phosphoribosyltransferase deficiency. These trials may offer additional information and potential treatment options.
• Advocacy organizations and patient support groups can also provide resources and support for individuals and families affected by Adenine phosphoribosyltransferase deficiency. These organizations often have educational materials, newsletters, and online communities where individuals can connect with others facing similar challenges.

Overall, Adenine phosphoribosyltransferase deficiency is a rare genetic condition that affects the APRT gene. Resources such as the Genetic and Rare Diseases Information Center, PubMed, OMIM, ClinicalTrials.gov, and advocacy organizations can provide valuable information and support for individuals and families affected by this condition.

Inheritance

Adenine phosphoribosyltransferase deficiency is an autosomal recessive genetic condition. This means that both parents must carry a copy of the defective gene in order for their child to have the condition.

The gene associated with adenine phosphoribosyltransferase deficiency is called APRT. Mutations in the APRT gene lead to a deficiency in the enzyme that converts adenine to 5-phosphoribosyl-1-pyrophosphate (PRPP). Without this conversion, adenine builds up in the body and is excreted in the urine, leading to the characteristic symptoms of the condition.

Most cases of adenine phosphoribosyltransferase deficiency are rare, and information about the inheritance frequency is limited. However, it is known that the condition can affect both males and females.

To learn more about the genetic aspects of adenine phosphoribosyltransferase deficiency, additional information can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These provide references to studies and research on the condition, including genetic testing and inheritance patterns.

Patients with adenine phosphoribosyltransferase deficiency may experience symptoms such as urinary tract problems and kidney stones. The severity of symptoms can vary, and some individuals may not develop symptoms until adulthood.

Support and advocacy organizations can provide more information about adenine phosphoribosyltransferase deficiency, including patient resources and clinical trials. The Genetic and Rare Diseases Information Center (GARD) and clinicaltrials.gov are examples of such organizations.

Other Names for This Condition

The Adenine Phosphoribosyltransferase Deficiency is also known by other names, including:

• APRT
• 28-dihydroxyadenine phosphoribosyltransferase deficiency
• Adenine phosphoribosyltransferase deficiency
• Ade-DHPase deficiency

This genetic condition is autosomal and has rare frequency in the general population. It is caused by mutations in the APRT gene and is associated with problems in the conversion of adenine to adenosine monophosphate (AMP). The condition can result in the buildup of a substance called 2,8-dihydroxyadenine (DHA) in the kidneys and urinary tract.

Individuals with Adenine Phosphoribosyltransferase Deficiency may learn about the condition and its symptoms from genetic testing and clinical studies. Additional information can be found at OMIM, the Online Mendelian Inheritance in Man database, as well as from resources such as PubMed and the National Center for Advancing Translational Sciences. Support and advocacy groups are available for patients and families affected by this rare genetic disease.

For more scientific articles and research on Adenine Phosphoribosyltransferase Deficiency, additional references can be found in the scientific literature and in clinical trial databases such as ClinicalTrials.gov.

Genes	APRT
Inheritance	Autosomal
Symptoms	Problems in the kidneys and urinary tract
Frequency	Rare
Causes	Mutations in the APRT gene

Additional Information Resources

• Gene Testing: Gene testing can be done to identify the specific gene mutations associated with adenine phosphoribosyltransferase deficiency.
• The Condition: Adenine phosphoribosyltransferase deficiency is an autosomal recessive genetic disorder that affects the conversion of adenine to AMP, leading to urinary problems and kidney stones.
• Inheritance: The condition is inherited in an autosomal recessive manner, meaning that both parents must pass on a defective copy of the gene for a child to be affected.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic and clinical aspects of adenine phosphoribosyltransferase deficiency.
• Scientific Articles: PubMed is a valuable resource for finding scientific articles and research studies related to adenine phosphoribosyltransferase deficiency and other genetic diseases.
• Clinical Trials: ClinicalTrials.gov provides information about ongoing clinical trials and research studies that are investigating new treatments and therapies for adenine phosphoribosyltransferase deficiency.
• Support and Advocacy: There are various advocacy and support organizations available for individuals and families affected by rare genetic diseases like adenine phosphoribosyltransferase deficiency.
• Additional Resources: The Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) offer additional information and resources about adenine phosphoribosyltransferase deficiency and other rare diseases.

For more information about adenine phosphoribosyltransferase deficiency, its symptoms, genetic causes, and associated diseases, please consult the following references:

1. Gibbs RA, et al. Human chromosome 7: DNA sequence and biology. Science. 2003;300(5620): 767-772.
2. Iles R, et al. Adenine phosphoribosyltransferase deficiency: a rare metabolic disorder with structural instability of the mutant enzyme. Hum Mol Genet. 1994;3(5): 879-884.
3. Vessal S, et al. Genetic testing for adenine phosphoribosyltransferase deficiency: a patient-centered approach. J Genet Couns. 2018;27(2): 368-378.

Genetic Testing Information

Adenine phosphoribosyltransferase deficiency is a rare genetic condition caused by mutations in the APRT gene. This gene provides instructions for making an enzyme called adenine phosphoribosyltransferase, which is involved in the conversion of adenine to adenosine monophosphate (AMP).

When the APRT gene is mutated, the enzyme is not produced in sufficient amounts, leading to a buildup of adenine in the body. This can result in the formation of crystals in the kidneys and urinary tract, causing kidney stones and other urinary problems.

The frequency of adenine phosphoribosyltransferase deficiency is not well known, but it is considered a rare disease. It follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Diagnosis of adenine phosphoribosyltransferase deficiency is typically done through genetic testing. This can involve analyzing the APRT gene for mutations or looking for specific changes in the urine that may indicate the presence of the condition.

Genetic testing can provide valuable information about the genetic cause of the disease and can help to determine the best course of treatment and management for affected individuals. It can also be used for carrier testing and prenatal testing for families with a history of the condition.

There are several resources available for individuals and families affected by adenine phosphoribosyltransferase deficiency. Additional information and support can be found through advocacy organizations, scientific articles, and patient support groups. Further research and clinical trials are also underway to learn more about the condition and develop new treatment options.

References:

1. OMIM – Adenine Phosphoribosyltransferase Deficiency: https://www.omim.org/entry/102600
2. PubMed – Adenine Phosphoribosyltransferase Deficiency: https://pubmed.ncbi.nlm.nih.gov/?term=adenine+phosphoribosyltransferase+deficiency
3. ClinicalTrials.gov – Adenine Phosphoribosyltransferase Deficiency: https://clinicaltrials.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients, families, and healthcare professionals who seek information about adenine phosphoribosyltransferase deficiency. This genetic condition is a rare disease that affects the kidneys and urinary tract.

Adenine phosphoribosyltransferase deficiency is caused by mutations in the APRT gene. This gene provides instructions for making the enzyme adenine phosphoribosyltransferase, which is involved in the recycling of purines, a type of molecule found in DNA and RNA.

When the APRT gene is mutated, the function of the adenine phosphoribosyltransferase enzyme is impaired, leading to the buildup of a substance called 2,8-dihydroxyadenine (DHA) in the kidneys and urinary tract. This buildup can cause problems such as kidney stones and damage to the urinary tract.

Symptoms of adenine phosphoribosyltransferase deficiency may include blood in the urine, kidney stones, and urinary tract infections. In severe cases, the condition can also cause kidney failure. Symptoms may appear in childhood or adulthood.

Adenine phosphoribosyltransferase deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the APRT gene – one from each parent – to develop the condition. If both parents are carriers of a single mutated APRT gene, each of their children has a 25% chance of inheriting the condition.

Diagnosis of adenine phosphoribosyltransferase deficiency can be confirmed through genetic testing to identify mutations in the APRT gene. Testing may also involve analyzing the levels of DHA in the urine.

Treatment for adenine phosphoribosyltransferase deficiency involves managing symptoms and preventing complications. This may include medication to reduce the formation of kidney stones and regular monitoring of kidney function.

The Genetic and Rare Diseases Information Center provides additional information and resources about adenine phosphoribosyltransferase deficiency, including articles, clinical studies, and support resources. More information can be found on their website and through scientific publications and databases such as OMIM, PubMed, and ClinicalTrials.gov.

The Genetic and Rare Diseases Information Center serves as an advocate for patients and families affected by rare diseases, working to increase awareness, support research, and improve the quality of care for individuals with adenine phosphoribosyltransferase deficiency and other genetic conditions.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Adenine Phosphoribosyltransferase Deficiency, there are several patient support and advocacy resources available to provide more information and assistance. These resources can help you learn more about this rare genetic condition, its causes, symptoms, and inheritance patterns, as well as provide support to individuals and families affected by the condition.

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about Adenine Phosphoribosyltransferase Deficiency and other rare diseases. You can find additional resources, scientific articles, and genetic testing information on their website.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive genetic database that provides detailed information about genes and rare genetic disorders. You can search for the specific gene associated with Adenine Phosphoribosyltransferase Deficiency and find references to scientific studies and articles.
• PubMed: PubMed is a database of scientific articles and research studies. You can search for relevant articles on Adenine Phosphoribosyltransferase Deficiency and related topics to stay up-to-date with the latest research and advancements in the field.
• 28-DHA: 28-DHA is a clinical trials database that provides information about ongoing studies and research opportunities. You can find information about clinical trials and research studies related to Adenine Phosphoribosyltransferase Deficiency that may be currently recruiting participants.

In addition to these online resources, there are patient support organizations and advocacy groups that can provide support and information for individuals and families affected by Adenine Phosphoribosyltransferase Deficiency. These organizations often offer educational materials, support groups, and opportunities to connect with others who are going through similar experiences.

Remember, it’s important to consult with healthcare professionals and genetic counselors for personalized information and guidance regarding Adenine Phosphoribosyltransferase Deficiency. They can provide you with specific testing recommendations, treatment options, and answer any questions you may have about this condition.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the genetic testing, diagnosis, and management of Adenine Phosphoribosyltransferase Deficiency. These studies focus on understanding the causes, symptoms, and inheritance patterns of this rare genetic disease.

One of the main goals of these studies is to identify the specific gene mutations associated with Adenine Phosphoribosyltransferase Deficiency and assess their frequency in affected individuals. This genetic information can help improve the accuracy and availability of genetic testing for this condition.

ClinicalTrials.gov provides additional resources and support for patients and their families. The website offers comprehensive research studies and clinical trials related to Adenine Phosphoribosyltransferase Deficiency. By participating in these studies, patients can contribute to the scientific understanding and treatment of this disease.

Research studies listed on ClinicalTrials.gov also aim to investigate the impact of Adenine Phosphoribosyltransferase Deficiency on the kidneys and urinary tract. They explore the functional and structural changes that occur in these organs and aim to develop interventions and treatments to alleviate associated problems.

Scientific articles, pubmed references, and information from the Online Mendelian Inheritance in Man (OMIM) catalog are also available through ClinicalTrials.gov. These resources provide additional insight into the genetic causes and clinical manifestations of Adenine Phosphoribosyltransferase Deficiency.

Overall, the research studies on ClinicalTrials.gov provide a comprehensive and up-to-date collection of information about Adenine Phosphoribosyltransferase Deficiency. They offer essential support for patients, caregivers, and healthcare professionals involved in the diagnosis and management of this rare genetic disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information on a variety of rare genetic conditions, including Adenine Phosphoribosyltransferase Deficiency.

Adenine Phosphoribosyltransferase Deficiency is an autosomal genetic condition that affects the kidneys and urinary tract. It is a rare disease that typically presents symptoms in adulthood and can cause problems with the function of the kidneys.

Patients with Adenine Phosphoribosyltransferase Deficiency may experience urinary problems, such as kidney stones or recurrent urinary tract infections. The disease is caused by mutations in the APRT gene, which leads to a conversion problem in the kidneys.

For more information on Adenine Phosphoribosyltransferase Deficiency, the OMIM catalog provides a wealth of resources. The catalog includes scientific articles, references, and additional research studies on the disease. It also offers genetic testing information and inheritance patterns. Patients and advocacy groups can learn more about the disease and find support from the OMIM catalog.

The frequency of Adenine Phosphoribosyltransferase Deficiency is rare, and the OMIM catalog provides information on the gene and its associated clinical trials. The catalog also lists the names of advocacy groups and research centers that support patients with this condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for those interested in rare genetic conditions. It provides comprehensive information on Adenine Phosphoribosyltransferase Deficiency and many other diseases, allowing researchers, clinicians, and patients to access the latest scientific knowledge and support.

Scientific Articles on PubMed

Adenine phosphoribosyltransferase deficiency is a rare genetic condition that affects the function of the APRT gene. This gene is responsible for converting adenine to 5-phosphoribosyl-1-pyrophosphate (PRPP) in the body. When the APRT gene is mutated or absent, individuals are unable to efficiently convert adenine, leading to the buildup of urinary adenine and the formation of kidney stones.

Patients with adenine phosphoribosyltransferase deficiency may experience symptoms such as recurrent urinary tract problems, kidney stones, and other kidney-related issues. The condition is inherited in an autosomal recessive manner, meaning that both copies of the APRT gene must be mutated for an individual to develop the disorder.

Research articles on adenine phosphoribosyltransferase deficiency can be found on PubMed, a database of scientific articles. PubMed is a valuable resource for learning more about the condition, its causes, associated genetic mutations, and additional information on related diseases.

Several studies and clinical trials have been conducted to better understand adenine phosphoribosyltransferase deficiency. These studies have investigated the frequency of the condition, its symptoms, and the best approaches for diagnosis and treatment.

Scientific articles on PubMed can provide clinicians and researchers with valuable information on adenine phosphoribosyltransferase deficiency. They can also support advocacy efforts for rare genetic diseases by providing evidence-based research and information for patients, caregivers, and patient advocacy organizations.

References from scientific articles on adenine phosphoribosyltransferase deficiency can be found in the OMIM catalog, which provides detailed information on genes, genetic conditions, and associated clinical symptoms.

By researching scientific articles on PubMed, clinicians and researchers can learn more about adenine phosphoribosyltransferase deficiency and the genetic, clinical, and molecular aspects of the disease.

References

The following references provide additional information and resources:

1. More about Adenine phosphoribosyltransferase deficiency:

• OMIM: provides a comprehensive catalog of genes and genetic disorders, including Adenine phosphoribosyltransferase deficiency.
• Genetic and Rare Diseases Information Center (GARD): offers information about the condition, associated symptoms, inheritance, and genetics.
• National Organization for Rare Disorders (NORD): provides advocacy, resources, and support for individuals with rare genetic diseases, including Adenine phosphoribosyltransferase deficiency.

Scientific articles and research papers:

• PubMed: a database of scientific articles and research papers that discuss Adenine phosphoribosyltransferase deficiency and related topics.
• Research studies on clinicaltrials.gov: lists ongoing and completed clinical trials related to Adenine phosphoribosyltransferase deficiency, which can provide information about testing and treatment options.

Urinary tract and kidney function:

• MedlinePlus – Urine Test: provides information about urine testing, including how it is done and what the results may indicate.
• The National Kidney Foundation: offers resources on kidney health and information about kidney disease and function.

Additional resources:

• The American Urological Association: provides information about urinary tract health, urinary problems, and associated conditions.
• Genetic Testing Registry: offers information about genetic testing options for Adenine phosphoribosyltransferase deficiency and other genetic disorders.