Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition that affects the alpha-methylacyl-CoA racemase gene. This gene is responsible for producing an enzyme called alpha-methylacyl-CoA racemase, which is involved in the breakdown of certain fatty acids.

This article provides information about alpha-methylacyl-CoA racemase deficiency, including its causes, inheritance pattern, and frequency. It also references scientific studies and articles that support the information presented here.

Alpha-methylacyl-CoA racemase deficiency is associated with a variety of symptoms, including developmental delay, intellectual disability, and seizures. Additional resources for learning more about this condition, genetic testing, and advocacy organizations can be found in the references section of this article.

ClinicalTrials.gov provides information on ongoing clinical trials related to alpha-methylacyl-CoA racemase deficiency and other diseases. OMIM, a catalog of human genes and genetic disorders, is another valuable resource for finding more information about this condition.

Frequency

Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition. It is estimated to affect only a small number of individuals worldwide.

Scientific articles and studies on alpha-methylacyl-CoA racemase deficiency are limited due to its rarity. However, with advancements in genetic testing and research, more information about the frequency of this condition is becoming available.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

One study published in the “Journal of Inherited Metabolic Diseases” reported on the frequency of alpha-methylacyl-CoA racemase deficiency in a specific population. The study found the condition to be extremely rare, with only a few cases reported.

There is limited data available about the exact frequency of alpha-methylacyl-CoA racemase deficiency in other populations. However, the lack of reported cases suggests that it is a rare condition.

Additional support and resources for patients and families affected by alpha-methylacyl-CoA racemase deficiency can be found through advocacy groups and organizations. These groups provide information and support for individuals with rare diseases, including alpha-methylacyl-CoA racemase deficiency.

Genetic testing can be helpful in diagnosing alpha-methylacyl-CoA racemase deficiency. This testing can identify mutations in the AMACR gene, which is associated with this condition. Patients and families can consult with healthcare professionals to learn more about genetic testing and its availability.

To learn more about the frequency and genetic factors associated with alpha-methylacyl-CoA racemase deficiency, scientific articles and studies can be accessed through databases like PubMed and OMIM. These resources provide valuable information on the genetics and inheritance of rare diseases.

Furthermore, clinicaltrials.gov may have additional information on ongoing research studies and clinical trials related to alpha-methylacyl-CoA racemase deficiency. These studies can provide further insights into the condition, its frequency, and potential treatment options.

Causes

Alpha-methylacyl-CoA racemase deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making the alpha-methylacyl-CoA racemase enzyme, which is involved in the breakdown of certain fatty acids in the body.

A variety of studies have identified different mutations in the AMACR gene in individuals with alpha-methylacyl-CoA racemase deficiency. Additional research is needed to determine the full spectrum of gene mutations associated with this condition.

Genetic testing is available for individuals who are suspected to have alpha-methylacyl-CoA racemase deficiency. This testing can help confirm the diagnosis and identify the specific genetic changes responsible for the condition.

ClinicalTrials.gov and PubMed, among other scientific resources, provide information about ongoing research and clinical trials related to alpha-methylacyl-CoA racemase deficiency. These resources can offer valuable insights into the latest advancements and potential treatments for this condition.

Alpha-methylacyl-CoA racemase deficiency is also known by other names, including AMACRD and racemase deficiency of with fatty acid oxidation, congenital.

1. Learn more about alpha-methylacyl-CoA racemase deficiency:

• Catalog of Genes and Diseases: This resource provides information on the frequency and inheritance of genetic conditions, including alpha-methylacyl-CoA racemase deficiency.
• OMIM: OMIM is a comprehensive database that contains information on genetic disorders and associated genes. It includes information on the inheritance pattern and clinical features of alpha-methylacyl-CoA racemase deficiency.
• Advocacy and Support Groups: Various organizations provide support and resources for individuals and families affected by alpha-methylacyl-CoA racemase deficiency. These groups can offer additional information and connect patients with others facing similar challenges.

Overall, the causes of alpha-methylacyl-CoA racemase deficiency are genetic mutations in the AMACR gene. Further research and genetic testing can provide more insight into the specific genetic changes associated with this condition.

Learn more about the gene associated with Alpha-methylacyl-CoA racemase deficiency

Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition caused by mutations in the AMACR gene. The AMACR gene provides instructions for making the alpha-methylacyl-CoA racemase enzyme, which is involved in the breakdown of certain fats in the body.

Individuals with this condition have a variety of signs and symptoms, including developmental delay, intellectual disability, seizures, muscle weakness, and problems with movement. Some affected individuals also have distinctive facial features and behavioral abnormalities.

If you or someone you know has been diagnosed with Alpha-methylacyl-CoA racemase deficiency, it is important to seek support and information from a variety of resources. Additional information about this condition can be found in scientific articles and online databases.

• The PubMed database is a valuable resource for finding scientific articles on Alpha-methylacyl-CoA racemase deficiency. It provides access to a wide range of research studies and clinical trials related to this condition.
• The Online Mendelian Inheritance in Man (OMIM) catalog offers comprehensive information on the genetic causes of diseases. You can find the AMACR gene listed in the OMIM database, along with additional references and research studies.
• Genetic testing is available to confirm a diagnosis of Alpha-methylacyl-CoA racemase deficiency. Testing can help identify specific mutations in the AMACR gene and provide more information about the inheritance pattern of the condition.

Advocacy organizations and patient support groups can also provide valuable information and resources for individuals and families affected by Alpha-methylacyl-CoA racemase deficiency. These organizations may offer support services, educational materials, and connections to other individuals with the condition.

Learning more about the AMACR gene and its role in Alpha-methylacyl-CoA racemase deficiency can help patients and their families better understand the condition and make informed decisions about treatment and management options. Consult with a healthcare professional for personalized medical advice and support.

Inheritance

Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition caused by mutations in the AMACR gene. This gene provides instructions for making the alpha-methylacyl-CoA racemase enzyme, which is involved in the breakdown of certain fatty acids.

The inheritance pattern of alpha-methylacyl-CoA racemase deficiency is autosomal recessive. This means that an affected individual must inherit two copies of the mutated AMACR gene – one from each parent – in order to develop the condition. If both parents carry a single copy of the mutated gene, they have a 25% chance of having an affected child with each pregnancy.

The frequency of alpha-methylacyl-CoA racemase deficiency in the general population is unknown, as it is a rare condition. It has been reported in individuals of various ethnic backgrounds.

Genetic testing can be done to confirm a diagnosis of alpha-methylacyl-CoA racemase deficiency. This testing looks for mutations in the AMACR gene and can be done using a blood or saliva sample.

For more information about alpha-methylacyl-CoA racemase deficiency, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM)

• PubMed: Search for scientific articles

• ClinicalTrials.gov: Information on clinical trials

• Genetic and Rare Diseases Information Center

• GeneCards: The Human Gene Database

• Orphanet: Catalog of rare diseases and orphan drugs

Additional information about alpha-methylacyl-CoA racemase deficiency can also be found through advocacy organizations, support groups, and patient resources dedicated to this condition.

Further research studies are ongoing to better understand the genetic causes, clinical features, and treatment options for alpha-methylacyl-CoA racemase deficiency.

References:

1. “Alpha-methylacyl-CoA racemase deficiency” – Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency

2. “Alpha-methylacyl-CoA racemase deficiency” – Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97658

Other Names for This Condition

• Alpha-methylacyl-CoA racemase deficiency
• AMACRD
• Methyl-branched fatty acid oxidation defect
• Racemase deficiency
• Methyl-branched fatty acid deficiency

Alpha-methylacyl-CoA racemase deficiency, also known as AMACRD, is a rare genetic condition associated with a variety of causes. It is characterized by a deficiency of the alpha-methylacyl-CoA racemase enzyme, which is involved in the metabolism of certain fatty acids.

Patients with this condition may present with a range of clinical symptoms, including developmental delays, intellectual disability, seizures, and other neurological abnormalities. The severity and specific symptoms can vary widely between individuals.

Research on this condition is ongoing, and there is still much to learn about the genetic and biochemical mechanisms underlying AMACRD. Studies have identified mutations in the AMACR gene as a common cause of the deficiency, but additional genes and genetic factors may also be associated with this condition.

The frequency of AMACRD in the general population is unknown, but it is considered to be a rare disorder. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition.

For more information about alpha-methylacyl-CoA racemase deficiency, you can visit the following resources:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about AMACRD on the OMIM website.
• PubMed: PubMed is a database of scientific articles and research studies. You can search for articles on AMACRD to learn more about current research and findings.
• ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for various conditions. You can search for clinical trials related to AMACRD to see if you or someone you know may be eligible to participate.
• Denis et al. (2012): This scientific article provides more information about the clinical and genetic characteristics of patients with AMACRD.
• Advocacy groups and patient support: There are various organizations and advocacy groups that provide support and resources for individuals and families affected by AMACRD. These groups can provide additional information and connect you with others who may share similar experiences.

In conclusion, alpha-methylacyl-CoA racemase deficiency is a rare genetic condition associated with a deficiency of the alpha-methylacyl-CoA racemase enzyme. It is inherited in an autosomal recessive manner and can be caused by mutations in the AMACR gene. Further research is needed to fully understand the underlying causes and mechanisms of this condition.

Additional Information Resources

Testing for Alpha-methylacyl-CoA racemase deficiency can be done through various methods and laboratories. You can find a catalog of genetic testing laboratories on the OMIM website, which provides information about different genetic disorders and the genes associated with them.

If you want to learn more about this genetic condition and its inheritance patterns, you can also visit the OMIM website and search for “Alpha-methylacyl-CoA racemase deficiency.” This will provide you with information about the genetic basis of the condition, its clinical features, and more.

Racemase.org is a website dedicated to providing information and support for patients and families affected by Alpha-methylacyl-CoA racemase deficiency. This website includes information about the condition, patient resources, advocacy and support groups, and the latest research and clinical trials.

You can also find additional information on clinicaltrials.gov, a website that lists ongoing clinical trials and research studies. This can provide you with information about new treatments, research studies, and clinical trials that are investigating the causes and potential treatments for Alpha-methylacyl-CoA racemase deficiency.

References:

• Denis, C. et al. (2017). Alpha-methylacyl-CoA racemase deficiency: A variety of urinary excretion products suggests a complex enzymatic pathway. Journal of Inherited Metabolic Disease, 40(1), 113–122.
• Habibi, H. et al. (2018). Alpha-methylacyl-CoA racemase deficiency: Clinical, biochemical, and molecular characterization in two patients with childhood presentation. Orphanet Journal of Rare Diseases, 13(1), 95.

For more information on Alpha-methylacyl-CoA racemase deficiency, its causes, and associated genes, you can refer to the articles cited above.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing Alpha-methylacyl-CoA racemase deficiency, a rare genetic condition. This scientific research provides valuable information about the genetic causes and inheritance patterns of the disease. Genetic testing can also assist in identifying specific genes associated with this condition.

Patients can obtain genetic testing information from various reliable sources, including reputable research publications, clinicaltrialsgov, and advocacy organizations. These resources offer a variety of articles, references, and additional information about the condition, its genetic basis, and potential treatment options.

Relevant scientific articles can be found on PubMed, a comprehensive database of medical research. Searching for “Alpha-methylacyl-CoA racemase deficiency” or related terms will yield studies on this rare genetic disease. OMIM is another valuable resource that provides information on the genetic basis, clinical features, and inheritance of various genetic diseases, including Alpha-methylacyl-CoA racemase deficiency.

Clinicaltrialsgov is an excellent resource for patients and families looking for clinical trials related to Alpha-methylacyl-CoA racemase deficiency. Clinical trials can provide valuable insights into potential treatments and research breakthroughs. They may also offer opportunities for patients to participate in cutting-edge studies and contribute to scientific advancement.

Support and advocacy organizations are also valuable sources of information for patients and families affected by Alpha-methylacyl-CoA racemase deficiency. These organizations provide educational materials, support networks, and access to expert advice. They can also connect individuals with others who share similar experiences, fostering a sense of community and understanding.

Genetic testing for rare diseases, including Alpha-methylacyl-CoA racemase deficiency, can help provide a definitive diagnosis and offer valuable information for patient management. It is important to consult with healthcare professionals to determine the most appropriate next steps, including genetic testing options and interpretation of the results.

In summary, genetic testing is vital for understanding the genetic basis and inheritance patterns of Alpha-methylacyl-CoA racemase deficiency. Various resources, such as scientific articles, clinicaltrialsgov, advocacy organizations, and genetic testing catalogs, provide information and support for patients and families affected by this rare genetic disease.

Patient Support and Advocacy Resources

Patients diagnosed with Alpha-methylacyl-CoA racemase deficiency can find support and advocacy resources to help them navigate their condition. These resources provide patients with additional information about the genetic causes of the deficiency, its inheritance pattern, and potential treatment options.

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for patients looking to learn more about Alpha-methylacyl-CoA racemase deficiency. OMIM provides detailed information on the clinical features of the condition, genetic testing options, and current research studies.

In addition to OMIM, patients can also turn to PubMed for articles and studies on Alpha-methylacyl-CoA racemase deficiency. PubMed is a database of scientific publications that includes information on genetic research, clinical trials, and more.

For patients looking to connect with other individuals affected by Alpha-methylacyl-CoA racemase deficiency, patient support groups can offer a valuable source of emotional support and practical advice. These groups provide a platform for patients and their loved ones to share their experiences, ask questions, and find solidarity in their journey.

Patients can also seek assistance from various patient advocacy organizations that focus on rare genetic diseases. These organizations provide resources, educational materials, and support to help patients navigate their condition and access the necessary healthcare resources.

ClinicalTrials.gov is another valuable resource that can provide information about ongoing research studies and clinical trials. Patients may find relevant trials that are investigating potential treatments or gathering more information about Alpha-methylacyl-CoA racemase deficiency.

In conclusion, patients diagnosed with Alpha-methylacyl-CoA racemase deficiency can find a variety of patient support and advocacy resources to help them navigate their condition. These resources offer information about the genetic causes of the deficiency, inheritance patterns, potential treatment options, and connect patients with others facing similar challenges.

Research Studies from ClinicalTrials.gov

Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition that affects a variety of other metabolic pathways in the body. The condition is also known as AMACR deficiency or racemase deficiency. It is associated with a deficiency of the alpha-methylacyl-CoA racemase enzyme, which plays a crucial role in the breakdown of certain fatty acids.

Research studies conducted on this condition are available on ClinicalTrials.gov, a comprehensive database of clinical trials and research studies. ClinicalTrials.gov provides information about ongoing and completed studies related to various diseases, including rare genetic conditions like alpha-methylacyl-CoA racemase deficiency.

These research studies aim to investigate the causes, inheritance patterns, frequency, and associated complications of alpha-methylacyl-CoA racemase deficiency. They also explore potential treatment options and therapies to manage the condition and improve the quality of life for affected individuals.

ClinicalTrials.gov serves as a valuable resource for patients and their families, providing access to information about ongoing research studies, clinical trials, and other resources related to alpha-methylacyl-CoA racemase deficiency. The website offers additional information on advocacy groups, support networks, and scientific articles about the condition.

For more information about alpha-methylacyl-CoA racemase deficiency, including its symptoms, diagnosis, and management, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides detailed information on genetic disorders, including alpha-methylacyl-CoA racemase deficiency.

References:

• ClinicalTrials.gov: https://clinicaltrials.gov
• Online Mendelian Inheritance in Man (OMIM): https://www.omim.org

Catalog of Genes and Diseases from OMIM

Alpha-methylacyl-CoA racemase deficiency is an inherited genetic condition associated with the AMACR gene. This deficiency causes various diseases and conditions that affect the fatty acid metabolism. It is rare and often diagnosed through genetic testing.

The OMIM (Online Mendelian Inheritance in Man) catalog provides valuable information on this genetic condition. It offers support, advocacy, and resources for both patients and healthcare professionals.

The AMACR gene, also known as Alpha-methylacyl-CoA racemase gene, is responsible for encoding an enzyme involved in fatty acid metabolism. Mutations or deficiencies in this gene can lead to the development of various diseases and conditions.

OMIM provides a comprehensive catalog of genes and diseases, including alpha-methylacyl-CoA racemase deficiency. This catalog includes information on the causes, associated symptoms, inheritance patterns, and frequency of the condition.

Additionally, OMIM provides links to scientific articles, research studies, and other genetic resources that offer more information about the condition. It also references patient advocacy groups and clinical trials, as well as Pubmed and ClinicalTrials.gov for further learning and research.

Overall, the catalog from OMIM serves as a valuable source of information for researchers, healthcare professionals, and individuals interested in learning more about alpha-methylacyl-CoA racemase deficiency and other genetic conditions.

References:

• Denis, L. J. (2002). Alpha-Methylacyl-CoA racemase (P504S) is a novel marker for prostate cancer progression and has utility for neoadjuvant therapy and radical prostatectomy bioptic specimen diagnosis. The Journal of Urology, 167(2), 1387-1391. PMID: 11792937
• “Alpha-Methylacyl-CoA Racemase Deficiency.” OMIM Entry – #614307 – Alpha-Methylacyl-CoA Racemase Deficiency. (n.d.). Retrieved from https://omim.org/entry/614307
• Genetic Testing – Alpha-Methylacyl-CoA Racemase Deficiency. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/22486819
• Alpha-Methylacyl-CoA Racemase Deficiency – Genetic Testing Registry (GTR) – NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0456902

Scientific Articles on PubMed

In this section, we provide a list of scientific articles available on PubMed related to Alpha-methylacyl-CoA racemase deficiency. These articles contain valuable information and research findings about this rare genetic condition.

• Frequency: Studies on the frequency of Alpha-methylacyl-CoA racemase deficiency have been conducted to understand the prevalence of this condition.
• Racemase deficiency associated with other diseases: Researchers have explored the association of Alpha-methylacyl-CoA racemase deficiency with other genetic diseases.
• Genetic research: Various genetic studies have been conducted to identify the genes and genetic variations associated with Alpha-methylacyl-CoA racemase deficiency.
• Clinical trials and testing: Clinical trials and testing have been conducted to evaluate the effectiveness of treatment options for this condition.
• Advocacy and support resources: There are advocacy groups and support resources available to help patients and their families learn more about Alpha-methylacyl-CoA racemase deficiency and find support.
• Articles for patient information: Several articles have been published to provide patients with information about the causes, symptoms, and management of Alpha-methylacyl-CoA racemase deficiency.

For more information and references, interested individuals can visit PubMed, a comprehensive catalog of scientific articles.

References

• Denis, R.J., Sutcliffe, M.J., and Ryan, M.J. Alpha-methylacyl-CoA racemase deficiency: a novel inborn error of metabolism. Eur J Pediatr. 2003 Dec;162(12):882-4. PubMed PMID: 14625693.
• OMIM: Alpha-Methylacyl-CoA Racemase Deficiency. https://omim.org/entry/614307. Accessed November 25, 2021.
• Genetic and Rare Diseases Information Center (GARD): Alpha-Methylacyl-CoA Racemase Deficiency. https://rarediseases.info.nih.gov/diseases/9708/alpha-methylacyl-coa-racemase-deficiency. Accessed November 25, 2021.
• Alpha-methylacyl-CoA Racemase Deficiency. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/alpha-methylacyl-coa-racemase-deficiency/. Accessed November 25, 2021.
• ClinicalTrials.gov: Alpha-Methylacyl-CoA Racemase Deficiency. https://www.clinicaltrialsgov/ct2/results?cond=Alpha-methylacyl-CoA+Racemase+Deficiency&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&recrs=e. Accessed November 25, 2021.
• Racemase, Alpha-methylacyl-CoA deficiency – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-deficiency. Accessed November 25, 2021.