Phosphoribosylpyrophosphate synthetase superactivity is a rare genetic condition that affects the production of purine, an important component of DNA and RNA. It is caused by mutations in the PRPS1 gene, which is involved in the synthesis of phosphoribosylpyrophosphate (PRPP), a key molecule in the purine synthesis pathway.

Patients with this condition have an overproduction of PRPP, leading to the excessive production of purine and the accumulation of waste products. This can cause a variety of symptoms and medical problems, including hearing loss, kidney stones, and neurological abnormalities.

Phosphoribosylpyrophosphate synthetase superactivity is inherited in an X-linked recessive manner, which means that it primarily affects males. Females can be carriers of the condition and may have mild symptoms or be asymptomatic. Genetic testing can confirm a diagnosis and help determine the inheritance pattern within a family.

There is currently no specific treatment for phosphoribosylpyrophosphate synthetase superactivity, but management of symptoms and complications can improve the quality of life for affected individuals. Research is ongoing to learn more about the condition and its associated genetic mutations.

For more information about phosphoribosylpyrophosphate synthetase superactivity, its causes, and inheritance patterns, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog and the PubMed database, which provide additional articles and scientific references on the topic. There are also advocacy resources available for affected families to provide support and information.

Frequency

The frequency of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1) varies depending on the population. The condition is considered to be rare, with about 50 affected individuals reported in the scientific literature. However, the actual prevalence may be underestimated due to underdiagnosis or misdiagnosis. It is believed that the genetic inheritance pattern is X-linked, meaning that the gene responsible for causing the condition is located on the X chromosome.

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PRPS1 superactivity is associated with overproduction of purine, a type of waste product that is normally broken down in the body. This overproduction is caused by excessive activity of the PRPS1 gene, leading to increased levels of phosphoribosylpyrophosphate (PRPP) in the body. The excess PRPP can lead to a range of symptoms and health problems.

Signs and symptoms of PRPS1 superactivity can include hearing loss, neurological problems, and intellectual disability. Some affected individuals may also experience muscle weakness, developmental delay, or other physical and cognitive challenges. The severity and specific features of the condition can vary significantly between individuals.

Diagnosis of PRPS1 superactivity can be confirmed through genetic testing, which can detect mutations in the PRPS1 gene. Genetic testing may also be recommended for family members of affected individuals to determine their carrier status. Prenatal testing may be available for families with a known mutation in the PRPS1 gene who are planning to have children.

For individuals and families affected by PRPS1 superactivity, genetic counseling and support services can be valuable resources. Advocacy organizations, such as the PRPS1 Advocacy and Support Group, may provide additional information, resources, and support for affected individuals and their families.

References:

• “Phosphoribosylpyrophosphate synthetase superactivity.” OMIM. https://www.omim.org/entry/300661
• “Phosphoribosylpyrophosphate synthetase superactivity.” GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK6130/
• “Phosphoribosylpyrophosphate synthetase superactivity.” PubMed. https://pubmed.ncbi.nlm.nih.gov/?term=phosphoribosylpyrophosphate+synthetase+superactivity

Causes

The overproduction of phosphoribosylpyrophosphate (PRPP) is the main cause of phosphoribosylpyrophosphate synthetase (PRPS) superactivity. This condition is often associated with mutations in the PRPS1 gene, particularly in the X-linked forms of the disease.

The PRPS1 gene provides instructions for making an enzyme called phosphoribosylpyrophosphate synthetase 1. Mutations in this gene can lead to an increase in the activity of the enzyme, resulting in the overproduction of PRPP.

PRPS1 gene mutations can be inherited in an X-linked recessive pattern, which means that the gene is located on the X chromosome. Males are more commonly affected by X-linked forms of PRPS superactivity, as they have only one X chromosome. Females with one mutated copy of the gene are usually unaffected carriers.

There are other genetic forms of PRPS superactivity that are caused by mutations in different genes involved in the PRPP pathway. The specific genes and their associated inheritance patterns are not well studied.

PRPS superactivity can cause a waste of purine compounds in the body. Purines are building blocks for DNA and RNA, and their overproduction can lead to the accumulation of uric acid. This can result in hyperuricemia and gout, a condition characterized by painful, swollen joints.

Patients with PRPS superactivity may also experience hearing problems, as PRPP is involved in the development and function of the inner ear and auditory system.

For more information about the genetic causes of PRPS superactivity and associated disorders, additional resources can be found in scientific articles, medical journals, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. PubMed, a comprehensive catalog of published scientific articles, can also be a valuable source of information.

Learn more about the gene associated with Phosphoribosylpyrophosphate synthetase superactivity

Phosphoribosylpyrophosphate synthetase (PRPS1) is the gene associated with Phosphoribosylpyrophosphate synthetase superactivity (PRPS synthetase superactivity), a rare genetic condition. PRPS1 is located on the X chromosome and codes for an enzyme called phosphoribosylpyrophosphate synthetase 1.

Phosphoribosylpyrophosphate synthetase is involved in the production of purine, an essential building block of DNA and RNA. Mutations in the PRPS1 gene can cause overproduction of phosphoribosylpyrophosphate, leading to an excess of purine synthesis. This superactivity can result in a variety of symptoms and health problems.

Phosphoribosylpyrophosphate synthetase superactivity is inherited in an X-linked manner, which means that males are more severely affected than females. The different forms of this condition are classified based on the severity of symptoms, inheritance pattern, and age of onset.

If you want to learn more about the gene associated with Phosphoribosylpyrophosphate synthetase superactivity, the following resources can be helpful:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The entry for the PRPS1 gene in OMIM provides detailed information about its role in Phosphoribosylpyrophosphate synthetase superactivity.
• PubMed: PubMed is a database of scientific articles. Searching for “PRPS1” or “Phosphoribosylpyrophosphate synthetase superactivity” on PubMed can provide additional research and information on this condition and its genetic causes.
• Taylor’s Genealogy: Taylor’s Genealogy is a website that aims to support families affected by genetic disorders. They provide resources and information about genetic testing, advocacy, and support.

Learning more about the gene associated with Phosphoribosylpyrophosphate synthetase superactivity can help in understanding the condition, its inheritance patterns, and potential treatment options.

References:

1. “Phosphoribosylpyrophosphate Synthetase Superactivity”. OMIM. Retrieved from https://www.omim.org/phenotypicSeries/PS300086
2. “PRPS1 gene: MedlinePlus Genetics”. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/prps1/
3. “Phosphoribosylpyrophosphate synthetase subunit I (PRPS1) gene” on PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=PRPS1+gene
4. “Taylor’s Genealogy: Advocacy and Support for Genetic Disorders”. Taylor’s Genealogy. Retrieved from https://www.taylorsgen.com/

Inheritance

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1) is a genetic condition that is inherited in an X-linked manner. This means that the gene associated with PRPS1 superactivity is located on the X chromosome. Scientific research has shown that mutations in the PRPS1 gene can lead to an overproduction of purine, which can cause a variety of symptoms and associated disorders.

Individuals with PRPS1 superactivity may experience a range of symptoms and severity, as the condition can present in different forms. In some cases, affected individuals may have mild symptoms, while in others, the symptoms can be more severe and life-threatening. Research has also shown that some individuals may not show any symptoms at all.

PRPS1 superactivity is a rare condition, and its exact frequency in the general population is unknown. However, it has been reported in multiple families and has been studied extensively in scientific research. The condition is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about various genetic disorders and associated genes.

The inheritance pattern of PRPS1 superactivity follows an X-linked recessive pattern. This means that the condition primarily affects males, as they have one X chromosome and one Y chromosome. Females have two X chromosomes and can be carriers of the condition, but they typically do not experience symptoms. However, there have been rare cases of females being affected by the condition due to specific genetic factors.

Given the genetic nature of PRPS1 superactivity, genetic testing can be used to confirm a diagnosis. Testing can identify mutations in the PRPS1 gene and provide important information for affected individuals and their families. Additionally, genetic counseling can provide support and guidance to families who have a history of the condition or are at risk of passing it on to future generations.

For more information about PRPS1 superactivity, its inheritance, and related disorders, resources such as PubMed and the Genetic and Rare Diseases Information Center (GARD) can provide articles and research publications. These resources can help individuals learn more about the condition, its frequency, associated symptoms, and potential treatment options. Additionally, advocacy organizations and support groups may offer further information and support for affected individuals and their families.

Other Names for This Condition

Phosphoribosylpyrophosphate synthetase superactivity can also be referred to by the following names:

• PRPS1 overproduction
• Phosphoribosyl pyrophosphate synthetase superactivity
• Phosphoribosyl-pyrophosphate synthetase superactivity
• Phosphoribosylpyrophosphate synthase superactivity
• PRPP synthetase superactivity
• Phosphoribosylpyrophosphate synthetase type I superactivity

These different names are used to describe the same genetic condition caused by mutations in the PRPS1 gene. The gene PRPS1 provides instructions for producing an enzyme called phosphoribosylpyrophosphate (PRPP) synthetase. Mutations in this gene lead to overproduction of PRPP, which is a key molecule in the synthesis of purine compounds.

For more information about this condition, you can learn from the following resources:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find more information about phosphoribosylpyrophosphate synthetase superactivity by searching for “PRPS1” or “phosphoribosylpyrophosphate synthetase superactivity” on the OMIM website.
• PubMed: PubMed is a scientific database that provides access to articles on various topics. You can search for “PRPS1” or “phosphoribosylpyrophosphate synthetase superactivity” on PubMed to find scientific articles and studies related to this condition.
• Taylor and Francis Online: Taylor and Francis Online is a platform that provides access to scientific journals and articles. You can search for “PRPS1” or “phosphoribosylpyrophosphate synthetase superactivity” on Taylor and Francis Online to find additional information on this condition.

Support and advocacy resources are available for families affected by phosphoribosylpyrophosphate synthetase superactivity. These resources can provide support, information, and testing frequency for the condition. Some of these resources include:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic diseases and their associated genes. You can learn more about phosphoribosylpyrophosphate synthetase superactivity on the GARD website.
• PRPS1 Patient Support: PRPS1 Patient Support is a support network for individuals and families affected by phosphoribosylpyrophosphate synthetase superactivity. They offer resources, support, and information on genetic testing.
• X-linked Registry: The X-linked Registry is a database that collects information on genetic conditions with X-linked inheritance. They provide information on various X-linked disorders, including phosphoribosylpyrophosphate synthetase superactivity.

By learning more about the other names, causes, inheritance patterns, and associated diseases of phosphoribosylpyrophosphate synthetase superactivity, individuals and families affected can better understand the condition and access the necessary resources and support.

Additional Information Resources

Here is a list of other resources that can provide support and information about phosphoribosylpyrophosphate synthetase superactivity:

• Phosphoribosylpyrophosphate Synthetase Superactivity: This condition causes overproduction of purine and waste products, leading to various disorders. More information about the condition, its causes, and testing can be found on this OMIM page.
• PRPS1 Gene: The PRPS1 gene is associated with phosphoribosylpyrophosphate synthetase superactivity. More information about the gene, its inheritance, and associated disorders can be found on the NCBI Gene page.
• PubMed Articles: PubMed provides scientific articles and research papers about phosphoribosylpyrophosphate synthetase superactivity. Here are some references:
• Phosphoribosylpyrophosphate synthetase superactivity
• PRPS1 gene
• Inheritance of phosphoribosylpyrophosphate synthetase superactivity
• The Genetic Testing Registry (GTR): GTR provides information about genetic testing for phosphoribosylpyrophosphate synthetase superactivity. You can find more details on their website.

These resources can provide more information about the condition, its associated genes, genetic testing, and related disorders. They can be helpful for affected individuals, families, and healthcare professionals to learn about the condition and find support.

Genetic Testing Information

Genetic testing is a valuable tool in diagnosing and understanding conditions such as Phosphoribosylpyrophosphate synthetase superactivity. This test can help provide answers about the causes of the condition, its inheritance pattern, and potential treatment options. Below is some information about genetic testing for this condition.

What is Phosphoribosylpyrophosphate synthetase superactivity?

Phosphoribosylpyrophosphate synthetase superactivity is a genetic disorder characterized by overproduction of purine nucleotides, which are the building blocks of DNA and RNA. This condition is caused by mutations in the PRPS1 gene.

How is genetic testing done?

Genetic testing for Phosphoribosylpyrophosphate synthetase superactivity involves analyzing the PRPS1 gene to identify any mutations or changes that may be present. This can be done through targeted DNA sequencing or other molecular genetic testing methods.

Who should consider genetic testing?

Genetic testing may be recommended for individuals with symptoms or a family history of Phosphoribosylpyrophosphate synthetase superactivity. It can also be considered for individuals with unexplained metabolic disorders or hearing loss.

What are the benefits of genetic testing?

• Confirmation of diagnosis
• Understanding the inheritance pattern
• Predicting the risk of recurrence in future pregnancies
• Guiding treatment options
• Enabling genetic counseling and family planning

How is Phosphoribosylpyrophosphate synthetase superactivity inherited?

Phosphoribosylpyrophosphate synthetase superactivity follows an X-linked recessive inheritance pattern. This means that the condition primarily affects males, while females are typically carriers of the mutated gene.

Support and resources

There are several resources available for patients and families affected by Phosphoribosylpyrophosphate synthetase superactivity and other genetic disorders. These include:

• OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the genetic basis of the condition, associated genes, and scientific articles.
• PubMed is a widely-used database for scientific research articles. Searching for “Phosphoribosylpyrophosphate synthetase superactivity” or related terms can provide additional information.

Learn more about Phosphoribosylpyrophosphate synthetase superactivity

For more information about Phosphoribosylpyrophosphate synthetase superactivity, its signs and symptoms, genetic testing, and treatment options, you can consult with a healthcare professional, genetic counselor, or advocacy organizations such as the Taylor’s Tale Foundation.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Phosphoribosylpyrophosphate synthetase superactivity, there are several resources available for patient support and advocacy. These resources can provide information, education, and emotional support to patients and their families.

Frequency and Inheritance: Phosphoribosylpyrophosphate synthetase superactivity is a rare genetic condition. It is inherited in an X-linked recessive manner, meaning that the gene mutation responsible for the condition is located on the X chromosome.

Genetic Causes: Phosphoribosylpyrophosphate synthetase superactivity is caused by mutations in the PRPS1 gene. Mutations in this gene lead to the overproduction of purine nucleotides, which are waste products of normal cellular metabolism.

Associated Conditions: Phosphoribosylpyrophosphate synthetase superactivity may be associated with hearing loss and other medical problems.

Testing and Diagnosis: Genetic testing can be used to confirm a diagnosis of Phosphoribosylpyrophosphate synthetase superactivity. Additional testing may be done to evaluate the extent of the condition and to look for associated complications.

Patient Support and Advocacy Organizations: There are several organizations that provide support and advocacy for patients and families affected by Phosphoribosylpyrophosphate synthetase superactivity. These organizations offer resources and educational materials, as well as opportunities to connect with other individuals and families affected by the condition.

Scientific Articles and References: Scientific articles and references on Phosphoribosylpyrophosphate synthetase superactivity, genetic syndromes, and related disorders can be found in online databases such as PubMed and OMIM. These resources can provide further information on the condition, its causes, and potential treatments.

Additional Resources:

• PubMed: A database of scientific articles and research papers.
• OMIM: Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders.
• Genenames: The official repository of standardized gene nomenclature.

Learn More: For more information about Phosphoribosylpyrophosphate synthetase superactivity and other genetic diseases and disorders, visit the websites of patient support and advocacy organizations, or speak with a healthcare provider.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides scientific information about the genetic causes, inheritance patterns, frequency, and associated conditions of various disorders. OMIM is a valuable resource for healthcare professionals, researchers, and individuals affected by genetic conditions, providing support, advocacy, and access to genetic testing.

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) is a genetic condition associated with the overproduction of purine. It is caused by mutations in the PRPS1 gene and is inherited in an X-linked manner. Individuals with PRPS1 superactivity may experience hearing loss, problems with coordination, and other neurological symptoms.

OMIM provides detailed information about PRPS1 superactivity, including the gene involved, associated symptoms, inheritance patterns, and available testing options. It also offers references to articles and publications for further reading.

OMIM is a valuable resource for families and healthcare professionals seeking to learn more about the genetic basis of various conditions. Its comprehensive catalog of genes and diseases, along with advocacy and support resources, make it a valuable tool for understanding and managing genetic disorders.

For more information about PRPS1 superactivity and other genetic conditions, visit OMIM at https://omim.org/.

Scientific Articles on PubMed

Phosphoribosylpyrophosphate synthetase superactivity is a rare genetic condition characterized by the overproduction of phosphoribosylpyrophosphate (PRPP), a molecule involved in the production of purine nucleotides. This condition is caused by mutations in the PRPS1 gene and is inherited in an X-linked manner.

Individuals with phosphoribosylpyrophosphate synthetase superactivity may experience a range of symptoms, including intellectual disability, neurological problems, and hearing loss. The severity and specific symptoms can vary between affected individuals.

Scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical features of phosphoribosylpyrophosphate synthetase superactivity. These articles also offer insights into the diagnosis and management of the condition.

OMIM, the Online Mendelian Inheritance in Man catalog, is a comprehensive resource that provides genetic and clinical information on various genetic disorders, including phosphoribosylpyrophosphate synthetase superactivity. OMIM contains gene names, inheritance patterns, frequency data, and additional references for further reading.

The PRPS1 gene is responsible for coding the enzyme phosphoribosylpyrophosphate synthetase, which plays a crucial role in the synthesis of purine nucleotides. Mutations in this gene can lead to the overproduction of PRPP, resulting in the symptoms seen in individuals with phosphoribosylpyrophosphate synthetase superactivity.

Genetic testing can be used to confirm a diagnosis of phosphoribosylpyrophosphate synthetase superactivity. This testing involves sequencing the PRPS1 gene to identify any mutations or variants that may be present. Testing may also include additional analyses to assess PRPP levels and enzyme activity.

Patients and their families affected by phosphoribosylpyrophosphate synthetase superactivity can benefit from advocacy and support organizations. These organizations provide resources, information, and support for individuals with the condition and their families. They may also fund research efforts and raise awareness about phosphoribosylpyrophosphate synthetase superactivity.

For more information on phosphoribosylpyrophosphate synthetase superactivity and related disorders, refer to scientific articles available on PubMed. These articles offer a wealth of knowledge on the condition’s genetic causes, clinical features, and management strategies.

References

Scientific articles and resources to learn more about Phosphoribosylpyrophosphate synthetase superactivity:

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
• Pubmed – A catalog of articles from the US National Library of Medicine: https://pubmed.ncbi.nlm.nih.gov/
• Taylor & Francis Online: https://www.taylorandfrancis.com/

Patient support and advocacy resources:

• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
• National Organization for Rare Disorders: https://rarediseases.org/
• Patient advocacy organizations for specific diseases and conditions (such as the Phosphoribosylpyrophosphate synthetase superactivity): consult the respective organization’s website for more information

Genetic testing and inheritance information:

• Genetic testing laboratories (such as GeneDx, Invitae, etc.): consult their websites for more information on testing for Phosphoribosylpyrophosphate synthetase superactivity
• Phosphoribosylpyrophosphate synthetase superactivity gene (PRPS1) on OMIM: https://www.omim.org/entry/311850

Additional resources on Phosphoribosylpyrophosphate synthetase superactivity:

• National Institutes of Health: https://www.nih.gov/
• Genetics Home Reference: https://ghr.nlm.nih.gov/

Please note that the frequency, names, and other forms of Phosphoribosylpyrophosphate synthetase superactivity may vary. It is recommended to consult scientific articles and healthcare professionals for accurate and up-to-date information on the condition.