X-linked creatine deficiency is a rare genetic disorder caused by mutations in genes associated with the X chromosome. It is a condition that affects the production and transport of creatine, a substance that plays an important role in energy metabolism and brain function. This deficiency primarily affects males, as they have only one X chromosome. The exact frequency of this condition is unknown, but it is considered to be a rare disorder.

Individuals with X-linked creatine deficiency may develop a variety of symptoms, including intellectual disability, delayed speech and language development, low muscle tone, and seizures. The severity of the symptoms can vary widely among affected individuals, even among members of the same family. Due to the complexity of this disorder and its variable presentation, genetic testing is necessary for an accurate diagnosis.

For individuals and families affected by X-linked creatine deficiency, resources and support are available. The Center for X-Linked Creatine Deficiency at the University of Manicini is a small center dedicated to research, clinical studies, and support for patients. Their website offers information, articles, and additional references about this condition and related disorders. ClinicalTrials.gov also provides a catalog of ongoing clinical trials for individuals interested in participating in research studies.

Given the rarity of X-linked creatine deficiency, advocacy and support groups are crucial for raising awareness and providing resources for affected individuals and their families. Organizations like the X-Linked Creatine Deficiency Association offer support, information, and advocacy for patients and their families. They also collaborate with researchers and clinicians to promote research and advancements in understanding and treating this condition.

In conclusion, X-linked creatine deficiency is a rare genetic disorder with unknown frequency. It is characterized by mutations in genes associated with the X chromosome, leading to a deficiency in creatine production and transport. Genetic testing is necessary for an accurate diagnosis, and resources and support are available for affected individuals and their families. Continued research and clinical studies are of utmost importance to further understand this condition and develop effective treatments.

Frequency

Testing for X-linked creatine deficiency is not available in all diagnostic laboratories. The Mancini et al. (2005) article provides a list of laboratories that can perform the testing (see Resources). Additionally, the Genetic Testing Registry (GTR) provides information about the genetic tests available for this condition.

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The frequency of X-linked creatine deficiency is unknown, but it is considered a rare disorder. It is estimated to affect approximately 1 in 1,000,000 people. This rarity makes it important to learn more about the condition and develop additional testing methods.

Genes and associated inheritance causes X-linked creatine deficiency. It is caused by mutations in the SLC6A8 gene, which is responsible for the production of the creatine transporter protein. Additional genes may also be involved in the development of this condition.

Clinical studies and patient advocacy resources are important sources of information to learn more about X-linked creatine deficiency. Published scientific articles, such as those found on PubMed and OMIM, provide valuable insights into the genetic and clinical aspects of this disorder. ClinicalTrials.gov can also provide information about ongoing clinical trials related to X-linked creatine deficiency.

Support and advocacy groups, such as the Rare Diseases Support and Advocacy Organizations Network (RDSAN), can connect patients and families affected by X-linked creatine deficiency and provide resources and support. The NIH Genetics and Rare Diseases Information Center (GARD) also offers information and resources for patients and families.

The X-linked creatine deficiency gene is called the SLC6A8 gene. This gene is involved in the production of the creatine transporter protein, which is responsible for the transport of creatine into cells. Mutations in this gene can result in decreased or absent creatine transport, leading to the symptoms of X-linked creatine deficiency.

The frequency of X-linked creatine deficiency varies among different populations and ethnicities. It is more commonly seen in individuals of European descent, but cases have been reported in other populations as well.

Due to the small number of reported cases, clinical studies on X-linked creatine deficiency are limited. However, ongoing research is important for better understanding the genetic and clinical aspects of this disorder. Identifying additional genes involved in the development of X-linked creatine deficiency may open up new avenues for treatment and management of the condition.

References:

1. Mancini, G. M., et al. (2005). Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. American Journal of Medical Genetics Part A, 132A(1), 80-87.

Causes

The causes of X-linked creatine deficiency are genetic. Researchers have conducted scientific studies to learn more about this rare condition and support the deficiency. Inheritance of X-linked creatine deficiency follows a specific pattern, as it is linked to the X chromosome.

Clinical advocacy, such as advocacy from the Creatine Deficiency Education and Research Center, provides support for patients and families affected by this condition. The Online Mendelian Inheritance in Man (OMIM) is a database that provides additional information on the associated genes and their names.

It is important to develop a better understanding of the causes of X-linked creatine deficiency and its frequency. More research articles and clinical trials are needed to gather more information on this rare genetic condition.

Testing for X-linked creatine deficiency can help diagnose patients and provide them with appropriate support and resources. However, due to the small number of cases reported, the exact frequency and experience of this condition are still unknown.

Learn more about the gene associated with X-linked creatine deficiency

X-linked creatine deficiency is a rare genetic condition caused by mutations in the SLC6A8 gene. The SLC6A8 gene provides instructions for making a protein called creatine transporter, which is responsible for moving creatine across cell membranes. The deficiency of this protein affects the body’s ability to transport and utilize creatine.

Studies have shown that the frequency of X-linked creatine deficiency is unknown, but it is believed to be relatively rare. The condition primarily affects males, as it is inherited in an X-linked recessive manner.

Clinical features of X-linked creatine deficiency can vary widely between individuals. Common symptoms include intellectual disability, developmental delay, speech and language delay, and muscle weakness. Some affected individuals may also experience seizures and behavioral problems.

Resources like OMIM (Online Mendelian Inheritance in Man) provide additional information on X-linked creatine deficiency, including genetic information, inheritance patterns, and clinical descriptions of the condition. Scientific articles and other research studies can also provide insight into the causes and development of the disease.

Testing for X-linked creatine deficiency may be available through genetic testing centers and laboratories. Genetic testing can help confirm a diagnosis and provide support to patients and their families. It is important to consult with healthcare professionals and genetics experts for appropriate testing and interpretation of results.

Support and advocacy groups play an important role in raising awareness about X-linked creatine deficiency and other rare disorders. These groups can provide resources and support for patients and their families, as well as contribute to research efforts and clinical trials.

To learn more about X-linked creatine deficiency and related disorders, you can refer to scientific articles and research studies published on PubMed. The Center for Rare Diseases at Mancini Institute and clinicaltrials.gov are also valuable resources for information on ongoing research and clinical trials.

By expanding our knowledge about the genetic basis and clinical manifestations of X-linked creatine deficiency, we can better understand the disease and work towards improved diagnosis, treatment, and support for affected individuals and their families.

Inheritance

The inheritance of X-linked creatine deficiency is genetic, meaning it is passed down from parents to their children. This condition can be found in the OMIM (Online Mendelian Inheritance in Man) genetic catalog, which is a comprehensive database of genetic disorders. The OMIM database is maintained by the Johns Hopkins University School of Medicine and provides information about the genes associated with various genetic diseases. The genetic testing is of great importance in confirming the diagnosis of this condition.

The exact genetic cause of X-linked creatine deficiency is still unknown. However, mutations in the SLC6A8 gene have been identified as one of the causes of this condition. The SLC6A8 gene provides instructions for making a protein that is involved in the transport of creatine in the body. Mutations in this gene can impair the function of the protein, leading to a deficiency of creatine.

Studies have shown that X-linked creatine deficiency is a rare condition, with a small frequency of occurrence. More research and clinical studies are needed to learn more about the inheritance patterns and causes of this rare genetic disorder.

For additional information and resources on X-linked creatine deficiency, the Genet Advocacy Center and PubMed provide articles and references about the condition. ClinicalTrials.gov also provides information on any ongoing clinical trials related to this deficiency.

Patient advocacy groups and support organizations can also provide valuable resources and support for individuals and families affected by X-linked creatine deficiency. These organizations can offer information about the condition, genetic testing, and available treatment options.

Other Names for This Condition

X-linked creatine deficiency is also known by other names, including:

• Cerebral creatine deficiency syndrome 1 (CCDS1)
• Spector-Bodenstein syndrome
• MB-CKD (mental retardation and behavioral disturbances with or without creatine deficiency)
• L-arginine:glycine amidinotransferase deficiency
• AGAT deficiency

This condition is a rare genetic disorder that affects the production and use of creatine in the body. The exact causes of x-linked creatine deficiency are still unknown, but it is thought to be inherited in an X-linked recessive pattern. This means that the condition is passed down from mothers who are carriers of the genetic mutation to their sons.

Clinical studies and genetic research have provided more information about this condition. Researchers have identified mutations in the AGAT gene and the SLC6A8 gene as the cause of x-linked creatine deficiency. These genes play a crucial role in the production and transportation of creatine in the body.

Patients with x-linked creatine deficiency may experience a range of symptoms, including intellectual disability, speech and language delays, behavioral problems, and seizures. The severity and onset of symptoms may vary from patient to patient.

For additional information, resources, and support for individuals and families affected by x-linked creatine deficiency, you can explore the following:

• X-Linked Creatine Deficiency – This page provides detailed information about the condition, its symptoms, causes, inheritance pattern, and genetic testing. It also includes references to scientific articles and clinical studies.
• OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders, including x-linked creatine deficiency. The OMIM entry provides a summary of the condition, associated genes, and references to relevant scientific articles.
• ClinicalTrials.gov – A database of clinical trials that are currently recruiting patients with x-linked creatine deficiency. This resource provides information about ongoing research and potential treatment options.
• PubMed – A database of scientific articles and research papers. You can search for specific keywords or authors to find more information about x-linked creatine deficiency and related topics.
• Genetic and Rare Diseases Information Center (GARD) – GARD provides reliable information about rare genetic disorders, including x-linked creatine deficiency. It offers resources for patients, families, and healthcare professionals.

Learning more about the genetic causes and clinical manifestations of x-linked creatine deficiency is of utmost importance for scientific research, genetic testing, advocacy, and improved patient care. By sharing information and supporting affected individuals and families, we can work towards a better understanding and management of this rare condition.

Additional Information Resources

This page provides additional resources for those interested in learning more about X-linked creatine deficiency. These resources include articles, genetic testing centers, patient support organizations, and clinical trials.

Articles and Studies

• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic disorders, including X-linked creatine deficiency. The database includes information about the frequency and inheritance of the condition, as well as links to relevant scientific articles.
• PubMed – PubMed is a database of scientific articles from various medical journals. Searching for “X-linked creatine deficiency” will provide a list of articles that explore different aspects of the condition.
• Scientific Journals – Various scientific journals have published studies on X-linked creatine deficiency. Some names include the Journal of Inherited Metabolic Diseases and Advances in Experimental Medicine and Biology.

Genetic Testing and Information Centers

• Genetic Testing Centers – Genetic testing can help confirm a diagnosis of X-linked creatine deficiency. Some centers that offer genetic testing services include the Mancini Center for Human Genomics and Gene Therapy and GeneDx. Consult with a healthcare professional to determine the most appropriate testing option for your specific situation.
• X-linked Creatine Deficiency Advocacy and Support Organizations – Patient support organizations such as the X-Linked Creatine Deficiency Network provide resources, information, and support for patients and their families. These organizations can help connect individuals with others who have experience with the condition and provide additional information and resources.

Clinical Trials

• ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical trials conducted worldwide. Searching for “X-linked creatine deficiency” on the website may provide information about ongoing or upcoming studies related to the development of treatments for the condition.

It is important to note that X-linked creatine deficiency is a rare condition, and research regarding the causes and associated genes is still ongoing. The information provided here is intended to serve as a starting point for further exploration and to connect individuals with additional resources.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of X-linked creatine deficiency. It allows for the identification of mutations in the SLC6A8 gene, which is associated with this condition. Through genetic testing, healthcare providers can confirm the diagnosis, provide information about the inheritance pattern, and offer genetic counseling to affected individuals and their families.

Genetic testing can also provide valuable information about the frequency of this condition. According to studies, X-linked creatine deficiency is a rare disorder, with an unknown frequency. However, with more research and additional studies, scientists and clinical researchers may be able to learn more about its prevalence in the population.

For individuals who are interested in genetic testing for X-linked creatine deficiency, there are resources available. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and associated genes. It provides information about the SLC6A8 gene and the clinical features of this condition.

Another resource is PubMed, a database of scientific articles. By searching for keywords such as “X-linked creatine deficiency” or “SLC6A8 gene,” individuals can find research articles and case studies that provide further information about this rare condition.

In addition, advocacy and support organizations can offer assistance to individuals and families affected by X-linked creatine deficiency. These organizations provide resources, support, and information about clinical trials that may be available for individuals interested in participating.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of X-linked creatine deficiency. It provides important information about the genetic causes of this condition, helps determine the frequency of the disorder, and offers support and resources for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about X-linked creatine deficiency and other rare genetic disorders. This center provides information about the causes, inheritance patterns, and frequency of these conditions.

For individuals affected by X-linked creatine deficiency, the center offers support and resources to help them better understand their condition. It also provides information on genetic testing and the importance of early diagnosis for effective management and treatment.

The Genetic and Rare Diseases Information Center can provide individuals with information on clinical studies and research on X-linked creatine deficiency. It offers a catalog of scientific articles, studies, and references on this condition to help individuals learn more and stay up-to-date with the latest research and advancements.

Patients and their families can also access information on other support organizations and advocacy groups dedicated to X-linked creatine deficiency and rare diseases in general. These organizations can provide additional resources, support, and information for those affected by this condition.

For healthcare professionals and researchers, the Genetic and Rare Diseases Information Center offers a wealth of information on the genetic and clinical aspects of X-linked creatine deficiency. It provides information on the associated genes, inheritance patterns, and clinical features of this condition.

Researchers can also find information on ongoing clinical trials and studies related to X-linked creatine deficiency. This information can help guide future research and contribute to the development of new treatments and therapeutic approaches.

Moreover, the center provides detailed information on X-linked creatine deficiency, including its symptoms, diagnosis, and management. It offers resources for healthcare professionals and genetic counselors to support them in providing accurate and up-to-date information to their patients.

Overall, the Genetic and Rare Diseases Information Center serves as a comprehensive resource for individuals looking for information, support, and resources related to X-linked creatine deficiency and other rare genetic disorders. Its wide range of information and resources can help individuals better understand their condition and navigate their healthcare journey.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with X-linked creatine deficiency, it is important to know that there is support available to help you navigate this condition. Below, we have provided a list of resources that can provide you with more information, support, and advocacy.

• X-Linked Creatine Deficiency Resource Center: Provides information on X-linked creatine deficiency, including clinical studies, genetic testing, and available treatments. Visit their website to learn more.
• X-Linked Creatine Deficiency Patient Support Groups: Join online support groups and connect with others who have experience with X-linked creatine deficiency. These groups can provide emotional support and a platform to share experiences.
• OMIM: The Online Mendelian Inheritance in Man catalog provides additional information about X-linked creatine deficiency and other associated genes. You can search for specific genes, such as the creatine gene, to learn more about their function and associated diseases.
• PubMed: Search for scientific articles on X-linked creatine deficiency to stay up-to-date on the latest research and developments in the field.
• Rare Diseases Patient Support Organizations: Many rare disease organizations offer support, advocacy, and resources for patients and their families. These organizations can help you find specialized care and connect with others facing similar challenges.
• ClinicalTrials.gov: Explore ongoing clinical trials and research studies related to X-linked creatine deficiency. Participating in clinical trials can provide access to new treatments and contribute to advancing our understanding of the condition.
• Genetic Testing Centers: Genetic testing can help confirm a diagnosis of X-linked creatine deficiency and provide important information about inheritance patterns. Contact a genetic testing center to learn more about the testing process and its implications.
• Genetic Counseling: Genetic counselors can provide in-depth information about X-linked creatine deficiency, its inheritance, and available reproductive options. They can also address any concerns or questions you may have about the condition.

Remember, you are not alone in your journey with X-linked creatine deficiency. Reach out to these resources and organizations to get the support and information you need.

Research Studies from ClinicalTrials.gov

Research studies are crucial for understanding and finding effective treatments for various diseases. In the case of X-linked creatine deficiency, research studies play an important role in uncovering the causes, inheritance patterns, and potential treatments for this rare genetic condition.

ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies related to X-linked creatine deficiency. It provides a catalog of clinical studies with information about the research objectives, patient eligibility criteria, and contact information for participating centers.

Research studies conducted on X-linked creatine deficiency aim to learn more about the frequency, inheritance, and genetic causes of the condition. These studies often involve additional testing, such as genetic testing and clinical examinations, to better understand the experiences and needs of affected individuals.

The importance of research studies on X-linked creatine deficiency cannot be understated. They offer a platform for scientific discovery, allow for the development of better diagnostic tools and treatment options, and provide a support network for patients and their families.

Scientific articles and research studies from ClinicalTrials.gov provide valuable information about X-linked creatine deficiency and other rare genetic disorders. They contribute to the growing body of knowledge on the condition and help healthcare professionals better understand and manage this rare disease.

For more information on X-linked creatine deficiency and related research studies, visit ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive database of genetic disorders.

By actively participating in research studies and staying informed about the latest developments, individuals and families affected by X-linked creatine deficiency can contribute to advancements in understanding and treating this condition.

References:

1. Mancini GM, et al. X-linked creatine deficiency. J Inherit Metab Dis. 2012;35(5):715-26.
2. Genetics Home Reference: X-linked creatine deficiency

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers, clinicians, and patients to learn about rare genetic disorders, their associated genes, and the clinical features of these conditions.

The catalog includes information on a wide range of diseases with various inheritance patterns, including X-linked creatine deficiency. X-linked creatine deficiency is a rare genetic condition that affects the production and transport of creatine, a molecule involved in energy production in the muscles and brain.

Patients with X-linked creatine deficiency may experience a range of clinical symptoms, including developmental delay, intellectual disability, muscle weakness, and seizures. The condition is caused by mutations in certain genes involved in creatine metabolism, such as the SLC6A8 gene.

The OMIM catalog provides detailed information on the clinical features, genetic causes, and inheritance patterns of X-linked creatine deficiency, along with references to scientific articles and additional resources for further reading. It also includes information on ongoing research studies and clinical trials related to X-linked creatine deficiency, as well as advocacy and support resources for patients and their families.

The catalog highlights the importance of genetic testing for diagnosing X-linked creatine deficiency, as well as the need for further research to better understand the condition and develop targeted treatments. It also emphasizes the rarity of the condition and the importance of raising awareness among healthcare professionals and the general public.

Overall, the OMIM catalog serves as a valuable tool for researchers, clinicians, and patients interested in learning more about X-linked creatine deficiency and other rare genetic disorders.

References:

1. Mancini, G.M. (2012) X-linked creatine transporter deficiency. Orphanet Journal of Rare Diseases, 7(Suppl 1), A12.
2. Genetic Testing for Inherited Muscle Conditions (n.d.). Retrieved from clinicaltrialsgov.
3. OMIM – Online Mendelian Inheritance in Man (n.d.). Retrieved from omim.org.

Scientific Articles on PubMed

Research on X-linked creatine deficiency, a rare genetic disorder, can be found in various scientific articles available on PubMed. These articles catalog the findings from studies conducted on patients with this condition and investigate additional causes and associated diseases. By studying the genetic information of individuals affected by X-linked creatine deficiency, researchers aim to learn more about the inheritance patterns and the importance of the gene involved in this disorder.

One such study by Mancini et al. (year) investigated the clinical and genetic characteristics of patients with X-linked creatine deficiency. The researchers identified mutations in specific genes that are associated with this condition. This study provides valuable insights into the clinical presentation and genetic basis of X-linked creatine deficiency.

In another study, the authors aimed to develop more resources and support for patients and families affected by X-linked creatine deficiency. This study highlights the importance of advocacy and patient experience in raising awareness about the disorder and improving the lives of those affected.

Furthermore, several articles discuss the importance of early diagnosis and testing for X-linked creatine deficiency. By identifying the mutations in the genes associated with this condition, healthcare professionals can provide targeted treatments and interventions to improve patient outcomes.

Currently, there are limited treatment options available for X-linked creatine deficiency. However, ongoing research and clinical trials listed on clinicaltrialsgov are exploring potential therapies and interventions to address the symptoms and underlying causes of this disorder.

Overall, the scientific articles available on PubMed provide a comprehensive overview of X-linked creatine deficiency, its clinical manifestations, genetic basis, and potential treatments. These resources are invaluable in advancing our understanding of this rare disorder and improving the lives of affected individuals and their families.

References

• About X-linked creatine deficiency:

Small M. X-linked creatine deficiency. Genet Med. 2006;8(4):203-212. doi:10.1097/01.gim.0000214182.58044.2a

GeneReviews. X-linked creatine transporter deficiency. National Center for Biotechnology Information (US); 2006.

Resources for X-linked creatine deficiency:

• Research articles on X-linked creatine deficiency from PubMed
• Other genes associated with X-linked creatine deficiency from the OMIM catalog
• Unknown gene associated with X-linked creatine deficiency from OMIM
• Importance of patient advocacy groups for rare diseases
• Additional information on X-linked creatine deficiency from Genetic and Rare Diseases Information Center
• Clinical trials for X-linked creatine deficiency on ClinicalTrials.gov
• Studies on X-linked creatine deficiency:

Mancini GM. X-linked creatine transporter deficiency.

Eur J Hum Genet. 2006;14(4):406-411. doi:10.1038/sj.ejhg.5201556