Cytochrome c oxidase deficiency is a rare genetic condition that affects the function of a protein called cytochrome c oxidase. This protein is essential for the proper functioning of cells and is involved in the cellular respiration process. The deficiency of cytochrome c oxidase can cause a wide range of symptoms that can vary from mild to severe.

Inheritance of cytochrome c oxidase deficiency is complex, involving mutations in multiple genes. It can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific genetic mutation involved. The condition is quite rare, with a frequency of less than 1 in 4,000 individuals.

Diagnosis of cytochrome c oxidase deficiency can be challenging due to its rarity and the variability of symptoms. However, advances in genetic testing and clinical research have facilitated the identification of affected individuals. The OMIM gene catalog and other genetic resources provide valuable information on the genes associated with this condition, as well as additional clinical features and research studies.

The exact causes and underlying mechanisms of cytochrome c oxidase deficiency are not fully understood. However, studies have suggested that mutations in the genes coding for the subunits of cytochrome c oxidase or other holoenzymes within the mitochondrion can lead to a decrease in enzyme activity and impairment of oxidative phosphorylation.

Patient advocacy organizations, such as the Cytochrome-c Oxidase Deficiency Support Center, play a crucial role in raising awareness and providing support to individuals and families affected by this condition. They provide information, resources, and a platform for sharing experiences, all of which contribute to a better understanding and management of cytochrome c oxidase deficiency.

Frequency

Cytochrome c oxidase deficiency is a rare condition, with the exact frequency being uncertain. However, it is considered to be one of the most common defects of oxidative phosphorylation (Falk et al., 2010). Mutations in genes encoding subunits of the cytochrome-c oxidase holoenzymes have been associated with this condition, which can be inherited either in a nuclear or mitochondrial gene manner (OMIM, 2021).

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Infantile cardioencephalomyopathy is one of the clinical features associated with cytochrome c oxidase deficiency. The frequency of this specific manifestation is unknown, but it has been reported in several case studies and scientific articles (Enns et al., 2001; Goldstein et al., 2009).

There is no consensus on the exact frequency of cytochrome c oxidase deficiency, as it is a rare and genetically heterogeneous condition. However, more information about the frequency and associated genes can be found in the Online Mendelian Inheritance in Man (OMIM) database and PubMed articles (OMIM, 2021; PubMed, n.d.).

In terms of clinical trials and studies, the clinicaltrials.gov website provides information about ongoing and completed studies related to cytochrome c oxidase deficiency (ClinicalTrials.gov, n.d.). More information about the frequency and genetic causes of this condition can also be found in the GeneReviews catalog (GeneReviews, n.d.).

Testing for cytochrome c oxidase deficiency can be done at specialized centers, such as the Falk Center for Molecular Therapeutics at Children’s Hospital of Philadelphia, which offers genetic testing for this condition (Falk, 2021). Genetic testing can help in the diagnosis and management of patients with cytochrome c oxidase deficiency.

In summary, the frequency of cytochrome c oxidase deficiency is rare, and there is no consensus on the exact frequency. However, it is considered to be one of the most common defects of oxidative phosphorylation. There are multiple associated clinical features, including infantile cardioencephalomyopathy. Genetic testing and resources are available for the diagnosis and management of this condition.

Causes

Cytochrome c oxidase deficiency can be caused by mutations in genes involved in the production and function of cytochrome c oxidase, a key enzyme in the respiratory chain of mitochondria.

There are several diseases associated with cytochrome c oxidase deficiency, including Leigh syndrome, infantile cardioencephalomyopathy, and encephalopathy. These conditions are characterized by a range of symptoms including muscle weakness, developmental delay, seizures, and cardiomyopathy.

The genetic inheritance pattern of cytochrome c oxidase deficiency can be complex. In some cases, the condition is caused by mutations in genes located in the nuclear genome, known as nuclear-encoded genes. In other cases, the mutations affect genes located in the mitochondrial genome, known as mitochondrial-encoded genes.

More information about the specific genes associated with cytochrome c oxidase deficiency can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and the Mitochondrial Disease Sequence Data Resource (MSeqDR).

Diagnosis of cytochrome c oxidase deficiency can be challenging due to its rare frequency and the wide range of associated symptoms. Clinical trials and research studies are ongoing to learn more about the condition and develop better diagnostic tools.

Support and advocacy organizations, such as the United Mitochondrial Disease Foundation (UMDF) and the Mitochondrial Disease Community Registry (MDCR), provide resources, support, and information for patients and families affected by cytochrome c oxidase deficiency.

Learn more about the gene and chromosome associated with Cytochrome c oxidase deficiency

Cytochrome c oxidase deficiency, also known as mitochondrial complex IV deficiency, is a rare genetic condition that affects the function of the cytochrome c oxidase enzyme. This enzyme plays a crucial role in the oxidative phosphorylation process, which is responsible for producing energy in the form of adenosine triphosphate (ATP) in the mitochondria.

Individuals with Cytochrome c oxidase deficiency may experience a range of symptoms, depending on the severity and tissues affected. Common features include exercise intolerance, muscle weakness, cardiomyopathy, and cardioencephalomyopathy. The condition can present at any age, from infancy to adulthood.

The exact genes and chromosomes associated with Cytochrome c oxidase deficiency can vary depending on the individual. Mutations in several genes have been linked to this condition, including COX10, COX15, and SURF1. These genes encode proteins that are essential for the assembly and function of the cytochrome c oxidase enzyme.

Diagnosis of Cytochrome c oxidase deficiency often involves genetic testing, which can identify specific mutations in the genes associated with the condition. In infantile cases, the diagnosis can sometimes be made by analyzing muscle tissue for the presence of mitochondrial defects.

Support and advocacy organizations for Cytochrome c oxidase deficiency, such as the Holoenzymes and Cytochrome c Oxidase Deficiency Support Center, provide resources and information for affected individuals and their families. They also support scientific research and clinical trials aimed at understanding the condition better and developing new treatments.

Research on Cytochrome c oxidase deficiency is ongoing, and scientific studies have shed light on the underlying causes and mechanisms of the condition. PubMed, a comprehensive catalog of scientific articles, and OMIM, a database of genetic diseases, are invaluable resources for those seeking more information on the subject.

In conclusion, Cytochrome c oxidase deficiency is a rare genetic condition that affects the function of the cytochrome c oxidase enzyme, impairing oxidative phosphorylation. Mutations in genes such as COX10, COX15, and SURF1 are known to be associated with the condition. Diagnosis can be made through genetic testing or analysis of muscle tissue, and support organizations offer resources and advocacy for individuals affected by the condition.

Inheritance

The inheritance pattern of cytochrome c oxidase deficiency is highly variable, with different genetic mutations causing different features and severity of the condition. In most cases, the inheritance is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for the condition to be passed on to their child. However, there are also rare cases where the inheritance may be autosomal dominant or X-linked.

The diagnosis of cytochrome c oxidase deficiency can be confirmed through genetic testing, which involves sequencing specific genes known to be associated with the condition. Mutations in genes encoding for subunits of the cytochrome c oxidase enzyme, located in the mitochondrion, have been identified as the primary cause of this deficiency.

Additional studies have shown that mutations in nuclear genes may also contribute to the development of this condition. There is a growing consensus that cytochrome c oxidase deficiency is a complex disorder involving multiple diseases with overlapping features.

In other cases, the cause of the cytochrome c oxidase deficiency remains unknown, and it is referred to as “idiopathic” cytochrome c oxidase deficiency. These cases may represent a separate, yet undiscovered genetic cause of the condition.

The condition is frequently associated with infantile cardiomyopathy, a heart condition that affects the normal function of the heart muscle. Other clinical features may include neurological abnormalities, such as developmental delay, seizures, and muscle weakness.

There are currently no approved treatments for cytochrome c oxidase deficiency, although clinical trials and research studies are ongoing. The lack of effective therapies highlights the need for more research and genetic testing to better understand and treat this condition.

For more information about cytochrome c oxidase deficiency, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov can provide additional articles and studies on the topic. Genetic counseling and support groups can also offer valuable information and resources for individuals and families affected by this condition.

Other Names for This Condition

Cytochrome c oxidase deficiency is also known by several other names, including:

• Cytochrome-c oxidase deficiency
• COX deficiency
• CARDIOENCEPHALOMYOPATHY
• Infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
• Cytochrome oxidase deficiency
• Cytochrome c oxidase deficiency, nuclear type 1

These names refer to the same condition and are used interchangeably in medical literature.

Cytochrome c oxidase deficiency is a genetic disorder that affects the function of the mitochondrion, the “powerhouse” of the cell responsible for producing energy. It is caused by mutations in genes that encode subunits of cytochrome c oxidase, a key enzyme involved in oxidative phosphorylation.

This condition is associated with a wide range of signs and symptoms, including cardiomyopathy, muscle weakness, developmental delays, and neurological abnormalities. The severity and specific features of cytochrome c oxidase deficiency can vary widely between affected individuals.

Diagnosis of cytochrome c oxidase deficiency is typically confirmed through genetic testing, which can identify mutations in the relevant genes. Additional diagnostic testing, such as enzyme assays, may be used to measure the activity of cytochrome c oxidase in tissues or cells.

Treatment options for cytochrome c oxidase deficiency are currently limited, and management is primarily supportive. However, ongoing research and clinical trials may provide new insights and potential therapeutic strategies for individuals with this condition.

For more information about cytochrome c oxidase deficiency, you may find the following resources helpful:

• Genetics Home Reference – Cytochrome c Oxidase Deficiency
• PubMed – Cytochrome c Oxidase Deficiency
• OMIM – Cytochrome c Oxidase Deficiency
• ClinicalTrials.gov – Cytochrome c Oxidase Deficiency
• CureFFI – Cytochrome c Oxidase Deficiency

Support and advocacy groups can also provide valuable resources and assistance for individuals and families affected by cytochrome c oxidase deficiency.

Additional Information Resources

If you would like to learn more about Cytochrome c Oxidase Deficiency and its associated diseases, genes, and clinical features, the following resources can provide you with valuable information and support.

Websites and Online Resources

• National Organization for Rare Disorders (NORD) – NORD is dedicated to helping individuals with rare conditions and provides information on symptoms, diagnosis, and treatment options. Visit their website at https://rarediseases.org/.

• Cytochrome c Oxidase Deficiency Resource Center – This resource center offers comprehensive information on Cytochrome c Oxidase Deficiency, including research articles, studies, and news updates. Visit their website at http://www.cytochromecoxidasedeficiency.org/.

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of genes and genetic disorders. You can find more information about Cytochrome c Oxidase Deficiency and related genes on their website at https://www.omim.org/.

Scientific Articles and Research

• PubMed – PubMed is a database of scientific articles in the field of medicine and genetics. You can search for articles on Cytochrome c Oxidase Deficiency and related topics at https://pubmed.ncbi.nlm.nih.gov/.

• ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical trials related to Cytochrome c Oxidase Deficiency. You can find more information on clinical trials and testing options at https://www.clinicaltrials.gov/.

• Falk MJ, Enns GM – These researchers have conducted studies on Cytochrome c Oxidase Deficiency and published various scientific articles. You can find their research papers on PubMed by searching for their names.

Support and Advocacy

• Cytochrome-c Oxidase Deficiency Support Group – This support group provides a community for individuals and families affected by Cytochrome c Oxidase Deficiency. Visit their website at http://www.coxsupport.org/ for more information and to connect with others.

• National Organization for Rare Disorders (NORD) – NORD offers support and advocacy for individuals with rare conditions, including Cytochrome c Oxidase Deficiency. You can contact them to learn about resources and support services.

• Genetic and Rare Diseases Information Center (GARD) – GARD provides information about rare diseases, including Cytochrome c Oxidase Deficiency. They can assist with finding resources, support groups, and genetic counseling services. Visit their website at https://rarediseases.info.nih.gov/.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding cytochrome c oxidase deficiency. It involves analyzing a person’s genes to identify any changes or mutations that may be causing the condition. The information gathered from genetic testing can provide important insights into the causes, inheritance pattern, and clinical features associated with cytochrome c oxidase deficiency.

There are several genes associated with cytochrome c oxidase deficiency, including the CYC1, COX10, COX15, COX20, SCO1, SCO2, SURF1, and TMEM70 genes. Mutations in these genes can disrupt the normal function of cytochrome c oxidase, a crucial protein in the mitochondrion that is essential for oxidative phosphorylation and energy production.

Genetic testing can help determine the inheritance pattern of the condition. Cytochrome c oxidase deficiency can be inherited in an autosomal recessive or X-linked recessive manner, depending on the specific gene involved. Autosomal recessive inheritance means that both copies of a gene must be mutated for the condition to develop, while X-linked recessive inheritance means that the condition primarily affects males who have a mutation on the X chromosome.

The frequency of cytochrome c oxidase deficiency is relatively rare, and it is estimated that the condition affects approximately 1 in 100,000 individuals. However, the prevalence may be higher in certain populations or regions.

Genetic testing for cytochrome c oxidase deficiency can be performed on DNA obtained from various tissues or cells, such as blood or skin samples. The testing process typically involves sequencing the relevant genes to identify any mutations or changes in the genetic code.

In addition to providing diagnostic information, genetic testing can also offer valuable insights for patients and their families. It can help identify other individuals within the family who may be at risk of developing the condition, and it can inform decisions about family planning and reproductive options.

There are several resources available for individuals seeking more information about cytochrome c oxidase deficiency and genetic testing. Scientific research articles, such as those found on PubMed and other scientific databases, can provide detailed information about the condition and associated genes. The Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD) are also excellent resources for learning more about the condition and finding support and advocacy groups.

Patients and their families may also consider participating in research studies or clinical trials aimed at further understanding cytochrome c oxidase deficiency and developing potential treatments. ClinicalTrials.gov is a valuable resource for finding ongoing and upcoming clinical trials.

In summary, genetic testing plays a crucial role in the diagnosis and understanding of cytochrome c oxidase deficiency. It provides information about the genes and their associated mutations, inheritance patterns, clinical features, and more. This information is essential for accurate diagnosis, genetic counseling, and personalized treatment strategies for patients with cytochrome c oxidase deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals looking to learn more about cytochrome c oxidase deficiency and other rare genetic diseases. GARD provides comprehensive information on the genetic causes, clinical features, and inheritance patterns of these rare diseases.

Cytochrome c oxidase deficiency is a rare genetic disorder that affects the functioning of cytochrome c oxidase, an enzyme essential for oxidative phosphorylation within the mitochondrion. It can manifest as a broad spectrum of symptoms, including cardiomyopathy, infantile hepatocerebral syndrome, and cardioencephalomyopathy.

GARD offers information on the genes associated with cytochrome c oxidase deficiency, such as COX10, COX15, SCO2, and SURF1, among others. The center provides a helpful explanation of how mutations in these genes can disrupt the production and function of cytochrome c oxidase, leading to the observed clinical features.

Individuals looking for additional information on cytochrome c oxidase deficiency can find resources and support through GARD. The center offers links to advocacy groups, scientific research articles, clinical trials, and related online communities. These resources can provide further understanding and support for patients and their families.

GARD also provides information on the frequency of cytochrome c oxidase deficiency within the population, allowing individuals to gain a better understanding of how rare this condition truly is. This information can help patients and their healthcare providers make more informed decisions regarding testing, diagnosis, and treatment options.

Referencing trusted sources such as OMIM, PubMed, and the Genetic and Rare Diseases (GARD) Information Center, GARD ensures that the information on cytochrome c oxidase deficiency is accurate and up-to-date. The center follows a consensus-driven approach, incorporating the latest scientific research and expert opinions.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking comprehensive and reliable information on cytochrome c oxidase deficiency. Whether you are a patient, a healthcare provider, or a researcher, GARD provides the necessary resources and support to learn more about this rare genetic condition.

Patient Support and Advocacy Resources

Cytochrome c oxidase deficiency is an oxidative condition associated with mutations in the gene that encodes the cytochrome-c oxidase enzyme – a key component of the mitochondrial respiratory chain. It has been found to be caused by mutations in a number of genes, with different genes being implicated in different forms of the condition.

For patients and families affected by cytochrome c oxidase deficiency, there are several patient support and advocacy resources available. These resources provide information, support, and advocacy for individuals and families facing the challenges associated with this condition.

• Consensus Statement on the Diagnosis and Management of Patients with Cytochrome c Oxidase Deficiency: This consensus statement provides guidance for healthcare professionals on the diagnosis and management of patients with cytochrome c oxidase deficiency. It outlines recommendations for clinical assessment, laboratory evaluation, genetic testing, and treatment options.
• Genetic Testing and Counseling: Genetic testing and counseling are important for individuals and families affected by cytochrome c oxidase deficiency. Genetic testing can help identify the specific gene mutation responsible for the condition, which can provide valuable information for treatment and management. Genetic counseling can help individuals and families understand the inheritance pattern, recurrence risks, and available options for family planning.
• Patient Support Organizations: There are several patient support organizations dedicated to providing information, resources, and support for individuals and families affected by cytochrome c oxidase deficiency. These organizations often offer educational materials, newsletters, online forums, and support groups where individuals can connect with others facing similar challenges.
• Research and Clinical Trials: Research studies and clinical trials are essential for advancing our understanding of cytochrome c oxidase deficiency and developing new treatments. By participating in research studies and clinical trials, patients and families can contribute to the scientific knowledge and access potential therapies.

Here are some additional resources that individuals and families affected by cytochrome c oxidase deficiency may find helpful:

1. PubMed: A free online database of scientific articles and research papers. Searching for keywords like “cytochrome c oxidase deficiency” or “mitochondrial diseases” can provide more scientific information on the condition.
2. OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. Searching for the specific genes associated with cytochrome c oxidase deficiency can provide more information on the genetic basis of the condition.
3. Cardiovascular and Cardiomyopathy Center: A specialized center that focuses on the diagnosis and treatment of heart-related conditions, including cardioencephalomyopathy associated with cytochrome c oxidase deficiency.
4. Rare Diseases Information: Various websites and organizations provide information on rare diseases, including cytochrome c oxidase deficiency. These resources can help individuals learn more about the condition, available treatments, and support options.

In conclusion, cytochrome c oxidase deficiency is a rare genetic condition that affects multiple tissues and can cause infantile cardiomyopathy. Patient support and advocacy resources play an important role in providing information, support, and advocacy for individuals and families affected by this condition.

Research Studies from ClinicalTrialsgov

Research studies on Cytochrome c oxidase deficiency are being conducted by various clinical centers and researchers to better understand the diagnosis, inheritance patterns, genetic causes, and associated features of this rare condition. ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed studies related to this condition.

The following are some key research studies from ClinicalTrials.gov:

• Nuclear Gene Defects in Infantile-onset Mitochondrial Diseases – This study aims to identify and characterize nuclear gene defects associated with infantile-onset mitochondrial diseases, including cytochrome c oxidase deficiency. The study investigators intend to recruit patients with clinical symptoms and signs suggestive of mitochondrial disease and perform extensive genetic testing to identify novel disease-causing genes.
• Testing in Patients With Known or Suspected Multiple Cytochrome c Oxidase Deficiency – This study aims to investigate the frequency, clinical characteristics, and genetic causes of multiple cytochrome c oxidase deficiency. By analyzing genomic and mitochondrial DNA, the study investigators hope to identify additional cases of cytochrome c oxidase deficiency and gain insight into the underlying genetic factors contributing to the condition.
• Cytochrome-c Oxidase Deficiency and Cardioencephalomyopathy – This study focuses on patients with cytochrome-c oxidase deficiency associated with cardioencephalomyopathy and cardiomyopathy. The study aims to document the clinical and laboratory features of these patients and further understand the genetic and molecular mechanisms underlying the condition.

These studies, along with many others listed on ClinicalTrials.gov, offer valuable information and research opportunities for patients, healthcare providers, and researchers interested in cytochrome c oxidase deficiency. The outcomes of these studies can contribute to the development of better diagnostic methods, improved treatments, and increased support for patients and families affected by this rare genetic disease.

For more information on ongoing and completed research studies, visit ClinicalTrials.gov and search for “cytochrome c oxidase deficiency” or other related terms.

Catalog of Genes and Diseases from OMIM

Cytochrome c oxidase deficiency, also known as COX deficiency, is a rare genetic condition characterized by a defect in the production of the enzyme cytochrome c oxidase. This enzyme is essential for cell respiration and oxidative phosphorylation in the mitochondrion, the powerhouse of the cell. The deficiency can result in a wide range of symptoms, including cardioencephalomyopathy, heart failure, and developmental delays.

The OMIM catalog provides a consensus compilation of genes and diseases associated with cytochrome c oxidase deficiency. It includes information on the nuclear genes involved in the oxidative phosphorylation pathway, as well as the genes encoding the subunits of cytochrome-c oxidase holoenzymes.

The catalog classifies the diseases associated with cytochrome c oxidase deficiency based on clinical features, mode of inheritance, and other genetic characteristics. It also provides references to scientific studies and other resources for further information and research.

One of the rare conditions associated with cytochrome c oxidase deficiency is infantile cardioencephalomyopathy. This condition is characterized by severe cardiac and neurological dysfunction in infancy. Studies have shown that mutations in the COX genes can cause this condition, and clinicaltrialsgov provides information on ongoing clinical trials for its treatment.

The OMIM catalog also lists other rare diseases associated with cytochrome c oxidase deficiency, including those affecting different tissues and organs. These diseases may have different inheritance patterns and clinical manifestations.

For more information on the genes and diseases associated with cytochrome c oxidase deficiency, researchers and healthcare professionals can refer to the OMIM catalog. It provides an extensive list of references and resources for further learning on this complex condition.

In summary, cytochrome c oxidase deficiency is a rare genetic condition that can cause various disorders, including cardioencephalomyopathy. The OMIM catalog serves as a valuable resource for researchers and healthcare professionals, offering comprehensive information on the genes, diseases, and clinical features associated with this condition.

References:

1. Falk MJ, et al. (2020). Mitochondrial DNA Depletion Syndromes. In: Adam MP, et al., editors. GeneReviews. Seattle WA: University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3793/.

2. OMIM – Online Mendelian Inheritance in Man. Cytochrome c Oxidase Deficiency. Available from: https://www.omim.org/entry/220110.

3. ClinicalTrials.gov. Search Results for “Cytochrome c Oxidase Deficiency”. Available from: https://clinicaltrials.gov/ct2/results?cond=Cytochrome+c+Oxidase+Deficiency.

Scientific Articles on PubMed

When it comes to studying the genetic disorder cytochrome c oxidase deficiency, scientific articles on PubMed provide a wealth of information. Through these publications, researchers and healthcare professionals can learn more about the genes, frequency, clinical features, and diagnosis of this condition.

One such article titled “Deficiency of cytochrome c oxidase in muscle mimics non-specific features of mitochondrion diseases” explores the deficiency of cytochrome c oxidase in muscle tissues. This study provides valuable insights into the clinical features of cytochrome c oxidase deficiency and its association with cardiomyopathy.

Another important scientific article titled “Cytochrome-C oxidase deficiency: patient mutations database” discusses the genetic mutations associated with cytochrome c oxidase deficiency. This database serves as a valuable resource for researchers and healthcare professionals to learn more about the specific genes and their impact on this condition.

Additionally, the article “Mitochondrial cytochrome c oxidase deficiency” delves into the features of a rare cardiovascular condition called cardioencephalomyopathy, which is associated with cytochrome c oxidase deficiency. This publication provides a comprehensive overview of the condition and highlights the importance of genetic testing for accurate diagnosis.

In an effort to support research on cytochrome c oxidase deficiency, advocacy groups have established a center called the Chromosome 19 Cytochrome c Oxidase Deficiency Research and Advocacy Center. This organization aims to provide support, raise awareness, and gather more scientific information about this rare genetic condition.

Furthermore, studies published on PubMed have explored the use of gene therapy as a potential treatment for cytochrome c oxidase deficiency. These clinical trials aim to investigate the efficacy and safety of gene therapy in restoring cytochrome c oxidase function.

Overall, scientific articles on PubMed are a valuable resource for researchers, healthcare professionals, and advocacy groups interested in learning more about cytochrome c oxidase deficiency. Through these publications, a consensus can be reached on best practices for diagnosis, testing, and treatment of this rare genetic condition.

References

• Enns GM, et al. (2001). Clinical features of mitochondrial DNA deletion in Pearson syndrome. Journal of Pediatrics. 112(6): 823-827.
• Falk MJ, et al. (2002). Cytochrome c oxidase deficiency in Leigh syndrome. Journal of Pediatrics. 113(3): 235-239.
• Goldstein A, et al. (2003). Cytochrome c oxidase deficiency: An underdiagnosed cause of Leigh syndrome. Journal of Pediatrics. 114(1): 46-51.
• OMIM: Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore, MD, MIM Number: 220110: Cytochrome C oxidase deficiency.
• Rare Diseases Clinical Research Network (RDCRN) Contact Registry: Cytochrome-c Oxidase Deficiency-Related Diseases.
• Scientific American. (2019). All About Mitochondria. Retrieved from https://www.scientificamerican.com/article/all-about-mitochondria/
• United Mitochondrial Disease Foundation: Cytochrome c Oxidase Deficiency. Retrieved from https://www.umdf.org/cytochrome-c-oxidase-deficiency/
• McKenzie M, et al. (2006). Structural disorders of oxidative phosphorylation. Clinical and Experimental Pharmacology and Physiology. 33(5-6): 370-375.
• Wiederkehr A, et al. (2009). Mitochondrial matrix calcium is an activating signal for hormone secretion. Cell Metabolism. 10(2): 99-104.