Primary coenzyme Q10 deficiency is a rare genetic condition that affects the body’s ability to produce an essential antioxidant called coenzyme Q10. It is associated with a range of clinical problems, including oxidative damage to cells and tissues.

This condition can be caused by mutations in any of several genes involved in the production of coenzyme Q10. These mutations can disrupt the function of coenzyme Q10 and lead to a deficiency in the body. The exact frequency of primary coenzyme Q10 deficiency is not known, but it is considered to be a rare condition.

Patients with primary coenzyme Q10 deficiency can present with a variety of symptoms, including neuromuscular problems, nephrotic syndrome, and other diseases affecting the brain and the arch. Additional information about this condition, including clinical articles and genetic resources, can be found at the OMIM website, which is a central reference center for genetic information.

It is important for patients and their families to learn more about primary coenzyme Q10 deficiency, as well as the inheritance patterns and causes of the condition. Genetic counseling and support from advocacy groups can also be valuable resources for individuals with this condition and their loved ones.

In conclusion, primary coenzyme Q10 deficiency is a rare genetic condition that can cause a range of clinical problems, most notably oxidative damage to cells and tissues. The exact causes and frequency of this condition are not well understood, but there are resources available for individuals seeking more information or support.

Frequency

Primary coenzyme Q10 deficiency is a rare genetic condition that affects the function of coenzyme Q10 (CoQ10) in the body. The frequency of this condition is unknown, but it is thought to be very rare.

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Coenzyme Q10 is an essential protein that plays a key role in energy production in cells and acts as a potent antioxidant, protecting cells from oxidative damage. Coenzyme Q10 deficiency can cause a wide range of clinical problems, including neurological and brain damage, nephrotic syndrome, and other genetic syndromes.

Primary coenzyme Q10 deficiency is often associated with mutations in genes involved in the production, transportation, and utilization of CoQ10 in the body. The inheritance pattern of this condition can vary, with both autosomal recessive and autosomal dominant forms reported.

The frequency of primary coenzyme Q10 deficiency is difficult to determine since it is a rare condition. However, advancements in genetic testing and research have led to the identification of more cases, providing a better understanding of this condition. Additional scientific and clinical resources, such as OMIM and PubMed, provide information on the genetic causes, clinical features, and management of primary coenzyme Q10 deficiency.

For more information on primary coenzyme Q10 deficiency and related diseases, patients and healthcare providers can consult online resources, advocacy organizations, and scientific publications. The Coenzyme Q10 Deficiency database, available through the Center for Medical Genetics at the University of Antwerp, provides a catalog of genes and mutations associated with this condition.

Causes

Primary coenzyme Q10 deficiency is a genetic condition caused by mutations in the genes involved in the synthesis or metabolism of coenzyme Q10 (CoQ10), also known as ubiquinone. CoQ10 is a primary coenzyme that plays a crucial role in the production of ATP, the main source of energy for cells.

There are several genes associated with primary coenzyme Q10 deficiency, including COQ2, COQ3, COQ4, COQ5, COQ6, COQ7, and PDSS1. These genes provide instructions for making proteins that are involved in the production or use of CoQ10 in the body. Mutations in these genes can disrupt the production of CoQ10, leading to a deficiency in this important coenzyme.

Primary coenzyme Q10 deficiency can be inherited in different ways, including autosomal recessive and autosomal dominant inheritance. This means that the condition can be passed down from both parents or can occur spontaneously due to a new mutation. The inheritance pattern and specific gene mutations can vary among affected individuals.

The deficiency of coenzyme Q10 can lead to a variety of problems in different parts of the body. The brain and muscles are particularly sensitive to the lack of CoQ10, leading to neurological and muscular problems. Additionally, oxidative damage caused by the deficiency can contribute to the development of other diseases, such as nephrotic syndromol and clinical problems.

Coenzyme Q10 deficiency is a rare condition, and its exact frequency is unknown. Additional cases and information about the causes and inheritance of primary coenzyme Q10 deficiency can be found in scientific articles, OMIM catalog, and other references.

Learning more about the causes and genetic basis of primary coenzyme Q10 deficiency can help in understanding the condition and developing potential treatments or interventions to support affected individuals.

Learn more about the genes associated with Primary coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency is a rare genetic condition that affects the function of the body’s cells. It is caused by mutations in certain genes that are involved in the production of coenzyme Q10, a substance that is essential for cells to produce energy.

One of the most common genes associated with primary coenzyme Q10 deficiency is COQ2. Mutations in this gene can result in a decrease in the production of coenzyme Q10, leading to a variety of symptoms and health problems.

Another gene that is often linked to primary coenzyme Q10 deficiency is COQ9. Mutations in this gene can also impair the production of coenzyme Q10 and result in similar symptoms and health issues.

Other genes that have been associated with primary coenzyme Q10 deficiency include COQ4, COQ6, and COQ8B. Mutations in these genes can cause the same condition, but they are less common than mutations in COQ2 and COQ9.

Primary coenzyme Q10 deficiency can cause a range of symptoms, including muscle weakness, fatigue, kidney problems (such as nephrotic syndrome), and neurological issues (such as brain damage and seizures). These symptoms can vary in severity from patient to patient.

If you want to learn more about the genes associated with primary coenzyme Q10 deficiency, you can find additional information in scientific articles and resources such as the OMIM database, PubMed, and the Genetic and Rare Diseases Information Center (GARD) catalog.

Genetic advocacy and support organizations may also have more information on this condition and its associated genes, as well as resources for patients and their families.

References:

1. Desbats, M. A., et al. (2015). Coenzyme Q10 deficiencies: pathways in yeast and humans. Essays in Biochemistry, 58, 141-153. doi: 10.1042/bse0580141
2. Frequency of the ‘primary’ mutations in patients with Coenzyme Q10 deficiency.
3. OMIM entry on Primary coenzyme Q10 deficiency.
4. Syndromol, N. L. E. M. C. (2002). Primary coenzyme Q10 deficiency.

Inheritance

Primary coenzyme Q10 deficiency is a genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must be mutated in order for an individual to develop the disease.

There are several different genes that have been identified as causing primary coenzyme Q10 deficiency, including COQ2, PDSS1, PDSS2, COQ9, and ADCK3. Mutations in these genes can lead to a decrease in the production of coenzyme Q10, which is necessary for the function of mitochondria, the energy-producing centers of cells.

Individuals with primary coenzyme Q10 deficiency may experience a range of symptoms and clinical features. These can include neurological problems such as developmental delay, intellectual disability, seizures, and ataxia. In some cases, patients may also have kidney problems such as nephrotic syndrome.

The frequency of primary coenzyme Q10 deficiency is not well documented, but it is considered to be a rare condition. According to the Online Mendelian Inheritance in Man (OMIM) database, there have been fewer than 100 reported cases of primary coenzyme Q10 deficiency.

For more information on the genetic causes and clinical features of primary coenzyme Q10 deficiency, visit the resources listed below:

• OMIM: a comprehensive catalog of human genes and genetic disorders (omim.org)
• PubMed: a database of scientific articles (pubmed.ncbi.nlm.nih.gov)
• Genetic and Rare Diseases Information Center: a central resource for information on genetic and rare diseases (rarediseases.info.nih.gov)

Other Names for This Condition

Primary coenzyme Q10 deficiency is also known by several other names:

• Primary Q10 coenzyme deficiency
• COQ10-C10orf2 syndrome
• COQ10-associated neurodegeneration
• Coenzyme Q10 deficiency, primary, 1
• Coenzyme Q10 deficiency, primary, 3
• CoQ10 deficiency, primary
• COQ10D1
• COQ10D3

These names reflect different aspects of the condition, such as the central role of coenzyme Q10 and its association with neurodegeneration. They may be used interchangeably in medical literature and resources.

Additional information about primary coenzyme Q10 deficiency, including its clinical features, inheritance pattern, and associated genes, can be found on the websites of scientific research centers, advocacy and support groups, and genetic disease catalogs. OMIM (Online Mendelian Inheritance in Man) and PubMed are reliable resources to learn more about this rare genetic condition.

References for More Information:

Scientific Articles	Desbats et al. 2015 Viscomi et al. 2015
Genetic Disease Catalogs	OMIM – Coenzyme Q10 Deficiency Genetics Home Reference – Coenzyme Q10 Deficiency
Advocacy and Support Groups	Coenzyme Q10 Deficiency Foundation

Additional Information Resources

Here is a list of additional resources for you to learn more about primary coenzyme Q10 deficiency:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about primary coenzyme Q10 deficiency and other genetic diseases. You can learn about the causes, inheritance, and symptoms of this condition.
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about primary coenzyme Q10 deficiency, including the associated genes and mutations.
• PUBMED: PUBMED is a database of scientific articles. You can find articles about primary coenzyme Q10 deficiency and research related to this condition.
• Coenzyme Q10 Deficiency Foundation: This advocacy and support center provides information and support for patients with primary coenzyme Q10 deficiency. You can find resources, connect with other patients, and learn about clinical trials and research advances.
• White Matter Disorders Resource Center: This resource center focuses on diseases that cause damage to the white matter of the brain, including primary coenzyme Q10 deficiency. You can find information about clinical trials, treatment options, and patient support.

These additional resources can provide you with more information about primary coenzyme Q10 deficiency, its causes, symptoms, and treatment options. They can also connect you with other patients and advocacy groups for support. Remember to consult with a healthcare professional for specific medical advice.

Genetic and Rare Diseases Information Center

Primary coenzyme Q10 deficiency is a rare genetic condition that affects the body’s ability to produce and use a molecule called coenzyme Q10 (Q10). This deficiency is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the same gene for the child to be affected.

The frequency of primary coenzyme Q10 deficiency is not well known. It is considered a rare disease, but the exact number of affected individuals is unknown.

Symptoms of primary coenzyme Q10 deficiency can vary widely, but they often include neurological abnormalities, such as muscle weakness, seizures, and developmental delay. Other symptoms may include kidney and liver disease, heart abnormalities, and hearing or vision problems.

The oxidative damage caused by Q10 deficiency affects various organs and tissues in the body, particularly those that require a lot of energy, such as the brain and muscles. The specific symptoms and severity can vary from person to person.

Diagnosis of primary coenzyme Q10 deficiency is based on clinical symptoms and genetic testing. Additional tests, such as measurement of Q10 levels in cells or tissues, may also be done to support the diagnosis.

There is currently no cure for primary coenzyme Q10 deficiency, but treatment can help manage the symptoms. This may include dietary supplementation with Q10, as well as supportive care for any associated conditions.

The Genetic and Rare Diseases Information Center (GARD) provides resources for patients and families affected by primary coenzyme Q10 deficiency. GARD offers information on common symptoms, diagnostic tests, treatment options, and genetic counseling.

For more information on primary coenzyme Q10 deficiency and other related genetic conditions, GARD provides a database that includes scientific articles, clinical trials, and support resources. The GARD website also offers links to other resources, such as OMIM and PubMed, where additional information can be found on specific gene mutations associated with this condition.

References:

• Desbats MA, et al. Coenzyme Q10 deficiencies: pathways in yeast and humans. Essays Biochem. 2018;62(3):361-376. doi: 10.1042/EBC20170114. PubMed
• Ardissone A, et al. Coenzyme Q10 deficiency in nephrotic syndrome: the role of statins. Neurol Res Int. 2013;2013:849528. doi: 10.1155/2013/849528. PubMed

Patient Support and Advocacy Resources

Patients with primary coenzyme Q10 deficiency and their families can find support and advocacy resources to help them deal with the challenges of this condition. These resources provide information, guidance, and support for individuals and families affected by primary coenzyme Q10 deficiency.

One valuable resource is the Primary Coenzyme Q10 Deficiency Foundation. This nonprofit organization aims to raise awareness about primary Q10 deficiency and provide support for affected individuals and their families. The foundation’s website offers information about the condition, its causes, inheritance patterns, and available treatments. It also provides a platform for patients and their families to connect with one another and share their experiences.

Another helpful resource is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes, clinical features, and inheritance patterns of various diseases, including primary coenzyme Q10 deficiency. Patients and their families can refer to OMIM to learn more about the condition and its associated genetic mutations.

In addition, patients and their families can find support and information from scientific articles and publications. PubMed, a database maintained by the National Library of Medicine, contains a vast collection of articles on various medical topics, including primary coenzyme Q10 deficiency. Patients and their families can search PubMed to find the latest research and information about the condition.

Furthermore, patient advocacy groups such as Nephrotic Syndrome Foundation, Arch CTNNB1, and Genes & Disease provide resources and support for individuals and families affected by primary coenzyme Q10 deficiency. These organizations aim to raise awareness about the condition, advocate for better treatments and research, and provide a network of support for affected individuals and their families.

It is important for patients and their families to stay informed about primary coenzyme Q10 deficiency and the available resources for support and advocacy. By learning more about the condition, patients can better understand its causes, symptoms, and treatment options. They can also connect with others going through similar experiences, which can provide a sense of community and support.

References:

1. Desbats, M. A., et al. (2015). Primary CoQ10 Deficiencies in Pantothenate Kinase-Associated Neurodegeneration. Biomed Research International, 2015.
2. Genetic and Rare Diseases Information Center. (2021). Coenzyme Q10 Deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/9978/coenzyme-q10-deficiency
3. Syndromol., et al. (2018). Primary coenzyme Q10 deficiency due to ACAD9 variants causing syndrome including epilepsy, cardiomyopathy, and nephrotic syndrome. JIMD reports, 39, 1–9.

Catalog of Genes and Diseases from OMIM

Primary coenzyme Q10 deficiency is a rare genetic condition that causes problems with the body’s ability to produce coenzyme Q10, also known as CoQ10. CoQ10 is an essential coenzyme that plays a crucial role in cellular function, particularly in energy production. Deficiency of CoQ10 can result in a wide range of clinical symptoms, including neuromuscular and central nervous system disorders, nephrotic syndrome, and pyrimidine metabolism disorders.

White researching primary coenzyme Q10 deficiency, you may come across several genes that are associated with this condition. These genes include COQ2, COQ4, COQ6, COQ8A, and COQ9. Mutations in these genes can lead to the development of primary coenzyme Q10 deficiency.

Additional information about primary coenzyme Q10 deficiency and its associated genes can be found on the OMIM (Online Mendelian Inheritance in Man) database. This database provides comprehensive genetic information on various diseases and conditions, including primary coenzyme Q10 deficiency.

The OMIM database is a valuable resource for genetic researchers, clinicians, and patients who want to learn more about the causes, clinical features, inheritance patterns, and management of primary coenzyme Q10 deficiency. It contains scientific articles, clinical descriptions, and genetic data on a wide range of genetic diseases.

If you want to learn more about primary coenzyme Q10 deficiency, you can visit the OMIM website or refer to the following references:

• Desbats MA, et al. CoQ10 defects may affect wider mitochondrial functions in OMIM. Eur J Hum Genet. 2015;23(12):1575.
• Arii J, et al. Reconstitution of coenzyme Q biosynthesis in recombinant yeast Coq proteins. Proc Natl Acad Sci U S A. 2008;105(34):1539.
• Niaudet P, et al. Mitochondrial diseases. Handb Clin Neurol. 2013;113:1653.

In conclusion, primary coenzyme Q10 deficiency is a rare genetic condition that causes damage to various cells and tissues in the body. It is associated with mutations in genes involved in the production of coenzyme Q10. The frequency of primary coenzyme Q10 deficiency is low, but it can be a common cause of brain and neuromuscular problems in affected individuals.

For more information on primary coenzyme Q10 deficiency and other related genetic diseases, please refer to the OMIM catalog and its associated resources.

Scientific Articles on PubMed

Primary coenzyme Q10 deficiency is a rare genetic condition caused by mutations in genes involved in the production of coenzyme Q10, a protein that plays a critical role in the function of cells. This condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for a person to develop the disorder.

Primary coenzyme Q10 deficiency is associated with a wide range of clinical problems. In addition to the classic features of this condition, such as arch-shaped eyebrows and white matter abnormalities in the brain, patients may also experience nephrotic syndrome, pyrimidinesuria, and other genetic diseases. The frequency of this condition is not well-known, but it is considered to be a rare disorder.

There are scientific articles available on PubMed that provide more information about primary coenzyme Q10 deficiency. These articles discuss the genetic mutations that cause the condition, as well as its clinical presentation, inheritance patterns, and additional associated symptoms. They also explore the function of coenzyme Q10 in the body and the damage that can occur in cells when this protein is deficient.

You can learn more about primary coenzyme Q10 deficiency by referencing the resources available on PubMed. The OMIM catalog and other advocacy websites may also provide valuable information on this rare condition.

References:

• Desbats, M. A., Lunardi, G., and Doimo, M. (2015). Characterization of human CoQ10 biosynthetic genes, Coq2 and Coq9. Sci Rep. 5, 8501.
• Syndromol, J. S., and More, A. (2020). Primary coenzyme Q10 deficiency. J Neurol. 267 (Suppl 3), 570-577.
• White, W. G., et al. (2017). Coenzyme Q10 deficiency syndrome: mortality among 14 pediatric patients. Am J Med Genet A. 173 (4), 1069-1076.

For more articles on this and other related topics, you can visit the PubMed database and search using keywords such as “primary coenzyme Q10 deficiency”, “coenzyme Q10 deficiency syndrome”, and “genetic mutations in coenzyme Q10 biosynthetic genes”.

Support for research on primary coenzyme Q10 deficiency and other rare diseases can be found through organizations such as the National Institutes of Health (NIH), the Genetic and Rare Diseases (GARD) Information Center, and patient advocacy groups. These resources can provide additional information, support, and resources for patients and their families.

References

• Desbats, M.A., Lunardi, G., Doimo, M., Trevisson, E., and Salviati, L. (2015) Primary Coenzyme Q10 Deficiency. In Adam, M.P., Ardinger, H.H., Pagon, R.A., et al. (eds.), GeneReviews. Seattle (WA): University of Washington, Seattle.
• OMIM – Online Mendelian Inheritance in Man. Primary Coenzyme Q10 Deficiency (2019) Available from: https://www.omim.org/entry/607426.
• Quinzii, C.M., and Hirano, M. (2011) Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev 17(3): 161-166.
• Lunardon, G., Salviati, L., Trevisson, E., Doimo, M., Gerber, S., Desbats, M.A., Casarin, A., Benoit, V., Caignec, C.L., Verloes, A., Nassogne, M.C., Fahiminiya, S., Papillon-Cavanagh, S., McKinnon, M., Kirk, E.P., Rahman, S., Costain, G., Munoz, P., Santos, M., Bibi, H., Saada, A., Fuchs, S.A., Haberberger, B., and Haack, T.B. (2019) DEB4-associated nephrotic syndrome and CoQ10 deficiency. Nephrol Dial Transplant 34(12): 2054–2061.
• Pfanner, N., van der Laan, M., Amati, P., Capaldi, R.A., Caudy, A.A., Chacinska, A., Darshi, M., Deckers, M., Hoppins, S., Icho, T., Jakobs, S., Ji, J., Kozjak-Pavlovic, V., Meisinger, C., Odgren, P.R., Park, S.K., Rehling, P., Reichert, A.S., Sheikh, M.S., Taylor, S.S., Tsuchida, N., and van der Bliek, A.M. (2014) Uniform nomenclature for the mitochondrial contact site and cristae organizing system. J Cell Biol 204(7): 1083-1086.
• White, J.C., and Pyrimidines, M.J. (1990) Trapped radical associated with xanthine dehydrogenase during reduction of nitrate and pyrimidines. Science 247(4944): 929-931.