Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition associated with a deficiency in the enzyme acyl-CoA oxidase. This condition has been described in a small number of cases, with studies suggesting that it may be more common in individuals of white ethnicity. The deficiency of this enzyme affects the breakdown of certain fatty acids and leads to the accumulation of fatty acids in peroxisomes, which are organelles responsible for various metabolic processes.

Clinical manifestations of peroxisomal acyl-CoA oxidase deficiency can vary widely among affected individuals. Symptoms may include developmental delays, intellectual disability, seizures, vision and hearing problems, and muscle weakness. The pattern of inheritance for this condition is autosomal recessive, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

Diagnosis of peroxisomal acyl-CoA oxidase deficiency is typically based on a combination of clinical features, laboratory testing, and genetic analysis. A number of research studies and case reports have described additional genes associated with peroxisomal disorders, providing more insight into the genetic causes of this condition. More information about specific genes and associated clinical features can be found in the OMIM catalog of genetic diseases.

Treatment options for peroxisomal acyl-CoA oxidase deficiency remain limited, and management primarily focuses on alleviating symptoms and supporting affected individuals. There are currently no specific drugs or therapies approved for the treatment of this condition. Patients with peroxisomal disorders may benefit from involvement in research studies and clinical trials, which can provide access to new treatments and support further scientific research on these rare diseases.

The Peroxisomal Disorders Research Society (PDRS) is a nonprofit organization that provides advocacy, resources, and support for individuals and families affected by peroxisomal disorders, including peroxisomal acyl-CoA oxidase deficiency. The PDRS website offers a wealth of information on these conditions, including articles, patient stories, and links to additional resources. Pubmed and ClinicalTrials.gov are also valuable sources for scientific and clinical information on peroxisomal acyl-CoA oxidase deficiency and related disorders.

In conclusion, peroxisomal acyl-CoA oxidase deficiency is a rare condition associated with a deficiency in the enzyme acyl-CoA oxidase. This genetic deficiency leads to the accumulation of fatty acids in peroxisomes and can cause a range of clinical manifestations. Diagnosis of this condition involves a combination of clinical evaluation, laboratory testing, and genetic analysis. Treatment options are limited, and management primarily focuses on symptom relief and support. The PDRS and other resources provide valuable support and information for individuals and families affected by this condition.

Frequency

Peroxisomal acyl-CoA oxidase deficiency, also known as acyl-CoA oxidase deficiency or ACAD deficiency, is a rare genetic condition characterized by a deficiency of the enzyme acyl-CoA oxidase in peroxisomes. This condition is associated with a variety of metabolic abnormalities and can cause serious health problems.

The exact frequency of peroxisomal acyl-CoA oxidase deficiency is not well established. It is considered to be a rare condition, with only a few hundred cases described in the scientific literature. The frequency may vary among different populations and ethnic groups.

Due to the rarity of this condition, it is important for patients, families, and healthcare providers to seek out reliable sources of information and support. The Peroxisomal Disorders Research Center and the Waterham Lab at the AMC Amsterdam are two prominent centers that provide valuable information about peroxisomal disorders, including ACAD deficiency. The OMIM database and PubMed can also be useful resources for finding additional research articles and references.

Clinical studies and scientific research on the genetics and causes of peroxisomal acyl-CoA oxidase deficiency are ongoing. Genetic testing can be used to confirm a diagnosis in cases where the condition is suspected. Inheritance pattern of peroxisomal acyl-CoA oxidase deficiency is autosomal recessive, meaning that both copies of the gene must have mutations for the condition to be present.

As with other rare diseases, advocacy organizations and support groups can provide valuable support and information for patients and families affected by peroxisomal acyl-CoA oxidase deficiency. ClinicalTrials.gov is a useful resource to learn about ongoing clinical trials and studies related to this condition.

In summary, peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition associated with a deficiency of the acyl-CoA oxidase enzyme in peroxisomes. The frequency of this condition is not well established, but it is considered to be rare. Genetic testing and support from advocacy organizations can provide valuable information and support for patients and families affected by this condition.

Causes

Peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition associated with a deficiency of the enzyme acyl-CoA oxidase. This deficiency is caused by mutations in the ACOX1 gene. The ACOX1 gene provides instructions for making the acyl-CoA oxidase enzyme, which is responsible for breaking down fatty acids in peroxisomes, a type of cellular organelle.

There have been only a few cases described in scientific literature about this deficiency. It is inherited in an autosomal recessive pattern, which means an individual must inherit two copies of the mutated gene in order to develop the deficiency. The frequency of this genetic condition is currently unknown.

More information about the AOCX1 gene and the deficiency can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, which is a comprehensive resource for genetic diseases. Additional support and resources can be found through advocacy organizations and patient support groups.

Clinical trials and research studies are ongoing to learn more about the causes and clinical manifestations of peroxisomal acyl-CoA oxidase deficiency. Additionally, further research and testing may be necessary to confirm a diagnosis of this rare genetic condition.

For more information about peroxisomal acyl-CoA oxidase deficiency and other associated genes and diseases, refer to the resources provided by the National Center for Advancing Translational Sciences (NCATS), PubMed, and other scientific articles and references.

Learn more about the gene associated with Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition that affects the peroxisomes, which are small compartments in cells that are responsible for breaking down different types of substances, including fatty acids.

This condition is associated with a deficiency in the gene coding for peroxisomal acyl-CoA oxidase, an enzyme that plays a key role in the breakdown of fatty acids in peroxisomes. Without this enzyme, the body is unable to properly metabolize certain types of fatty acids, leading to an accumulation of these fatty acids in various tissues.

Studies on individuals with peroxisomal acyl-CoA oxidase deficiency have shed light on the clinical manifestations and inheritance pattern of this rare condition. Clinical features commonly observed in affected individuals include developmental delay, liver dysfunction, and muscle weakness. The severity and specific symptoms can vary widely among patients.

Research on this condition has been the focus of scientific studies, and several articles have been published in scientific journals describing the genetic and clinical aspects of peroxisomal acyl-CoA oxidase deficiency. These articles can be found in databases such as PubMed and OMIM, and provide valuable information for healthcare practitioners and researchers.

It is important for individuals with peroxisomal acyl-CoA oxidase deficiency to receive appropriate medical management and support. Genetic testing can help confirm the diagnosis and identify specific mutations in the gene associated with this condition. Patients and their families can benefit from additional resources and advocacy organizations that provide support, information, and resources for rare genetic diseases.

ClinicalTrials.gov is another valuable resource for individuals with peroxisomal acyl-CoA oxidase deficiency, as it provides information on ongoing clinical trials and research studies related to this condition. Participating in clinical trials can provide access to experimental treatments and contribute to the advancement of medical knowledge.

In summary, peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition associated with a deficiency in the gene coding for the peroxisomal acyl-CoA oxidase enzyme. Research and clinical studies have provided valuable information on the clinical manifestations, inheritance pattern, and genetic causes of this condition. Additional resources and support are available for patients and their families through advocacy organizations and genetic testing can help confirm the diagnosis.

Inheritance

Peroxisomal acyl-CoA oxidase deficiency is an inherited condition. It follows an autosomal recessive pattern of inheritance, which means that both copies of the ACOX1 gene in each cell have mutations. The ACXO1 gene provides instructions for making an enzyme called acyl-CoA oxidase, which is involved in the breakdown of certain fats in peroxisomes.

Parents of an individual with peroxisomal acyl-CoA oxidase deficiency each carry one copy of the mutated gene, but they typically do not show signs or symptoms of the condition. When both parents carry a mutated gene, there is a 25% chance with each pregnancy that their child will inherit two mutated copies of the gene and be affected by the condition.

Other Names for This Condition

Peroxisomal acyl-CoA oxidase deficiency is also known by several other names:

Peroxisomal acyl-CoA oxidase deficiency syndrome
Peroxisomal acyl-CoA oxidase deficiency disease
ACOX gene deficiency
ACOX deficiency
Pseudoneonatal adrenoleukodystrophy
Leukoenzephalopathie – metabolische pseudodystrophie

These alternative names provide more information about the causes, symptoms, or patterns of inheritance associated with this condition.

More information about Peroxisomal acyl-CoA oxidase deficiency can be found in scientific articles and research studies. These resources can be accessed through databases such as PubMed, OMIM, and ClinicalTrials.gov. They provide information on clinical features, genetic inheritance, frequency, and genetic testing for this rare peroxisomal disorder.

The Peroxisomal Disorders Outreach and Advocacy resource center also provides support and information for patients and families affected by this condition.

Learn more about Peroxisomal acyl-CoA oxidase deficiency and related genetic diseases from the Peroxisomal Disorder Resource Center’s catalog of genes associated with peroxisomal disorders.

Additional Information Resources

There are several resources available for obtaining additional information on Peroxisomal acyl-CoA oxidase deficiency:

PubMed: A database of scientific articles, where you can find published studies and research on Peroxisomal acyl-CoA oxidase deficiency.
ClinicalTrials.gov: A comprehensive database that provides information on ongoing clinical trials related to Peroxisomal acyl-CoA oxidase deficiency.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find more information on Peroxisomal acyl-CoA oxidase deficiency and associated genes in the OMIM database.
Center for Inherited Diseases: This resource center specializes in inherited diseases and provides information on various genetic conditions, including Peroxisomal acyl-CoA oxidase deficiency.
Advocacy Organizations: There are advocacy organizations dedicated to supporting patients with Peroxisomal acyl-CoA oxidase deficiency and their families. These organizations can provide support, information, and resources for individuals affected by the condition.
Scientific Studies: Numerous scientific studies have been conducted on Peroxisomal acyl-CoA oxidase deficiency. These studies can provide detailed information on the condition, its causes, inheritance pattern, and other associated factors.
Genetic Testing: Genetic testing can be conducted to diagnose Peroxisomal acyl-CoA oxidase deficiency. Testing can help confirm the condition and identify specific gene mutations.

By utilizing these resources, you can learn more about Peroxisomal acyl-CoA oxidase deficiency, its symptoms and clinical features, treatment options, and ongoing research in the field.

Genetic Testing Information

Genetic testing is available for Peroxisomal acyl-CoA oxidase deficiency to confirm a diagnosis. This condition is rare, and genetic testing can help identify specific gene mutations associated with the deficiency.

The frequency of Peroxisomal acyl-CoA oxidase deficiency is not well understood. However, it is known to be a rare genetic disorder.

Testing for Peroxisomal acyl-CoA oxidase deficiency can be done through several methods. These include sequencing specific genes known to be associated with the deficiency, such as the ACOX1 gene.

Inheritance of this condition can follow an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to be affected.

Genetic testing can provide important information about the condition and help guide treatment and management strategies. It can also assist in genetic counseling for families at risk of having a child with Peroxisomal acyl-CoA oxidase deficiency.

For more information about genetic testing, the following resources can be helpful:

OMIM: A catalog of human genes and genetic disorders, including Peroxisomal acyl-CoA oxidase deficiency
PubMed: An online database of scientific articles and studies on Peroxisomal acyl-CoA oxidase deficiency
ClinicalTrials.gov: A registry of clinical research studies on Peroxisomal acyl-CoA oxidase deficiency and other diseases

In addition to genetic testing, clinical examination and other diagnostic tests may be used to confirm a diagnosis of Peroxisomal acyl-CoA oxidase deficiency. These can include biochemical testing, imaging studies, and evaluation of peroxisome function.

It is important to consult with a healthcare professional or a genetics specialist for more information about genetic testing and the specific steps involved in the process.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for clinical information on peroxisomal acyl-CoA oxidase deficiency. This center provides comprehensive information about this rare genetic condition, including articles, clinical studies, and advocacy resources.

Peroxisomal acyl-CoA oxidase deficiency is a genetic disorder that affects peroxisomes, which are cell compartments responsible for various metabolic processes. This condition is caused by mutations in the ACOX1 gene and is associated with a deficiency in the acyl-coenzyme A oxidase enzyme.

Patient cases of peroxisomal acyl-CoA oxidase deficiency are extremely rare, making it a rare genetic disease. The frequency and inheritance pattern of this condition have been described in scientific research articles and genetic studies. The exact causes and factors for developing this condition are still being researched.

The Genetic and Rare Diseases Information Center provides information on the signs and symptoms of peroxisomal acyl-CoA oxidase deficiency, as well as available testing and diagnostic methods. It also offers resources for patients and families, including support groups and advocacy organizations.

To learn more about peroxisomal acyl-CoA oxidase deficiency, visit the Genetic and Rare Diseases Information Center’s catalog of articles and references. Additional information can also be found through the OMIM, PubMed, and ClinicalTrials.gov databases.

For patients and families seeking support and assistance in managing this rare genetic condition, the center offers resources and information on clinical trial opportunities, genetic counseling, and patient advocacy.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on peroxisomal acyl-CoA oxidase deficiency, providing comprehensive and up-to-date information on this rare genetic disease.

Patient Support and Advocacy Resources

Patients and families affected by Peroxisomal acyl-CoA oxidase deficiency can find additional information and support from the following resources:

Clinical Trials: ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to Peroxisomal acyl-CoA oxidase deficiency. It is a valuable resource for those interested in participating in research or learning about the latest scientific advancements in the field.
Online Resources: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information about the genetic causes, inheritance pattern, and clinical features of various rare diseases. It includes a page specifically dedicated to Peroxisomal acyl-CoA oxidase deficiency.
Genetic Testing and Counseling: Individuals with a suspected or confirmed diagnosis of Peroxisomal acyl-CoA oxidase deficiency can seek genetic testing and counseling services. These services can provide more information about the condition, its genetic basis, and the implications for family members.
Patient Support Groups: Patient support groups play a crucial role in providing emotional support, sharing information, and advocating for the needs of individuals and families affected by rare diseases. Connecting with a patient support group can offer a sense of community and provide opportunities to learn from others who have faced similar challenges.
Scientific Articles and Research Papers: Scientific articles published in peer-reviewed journals are an important source of information for healthcare professionals, researchers, and individuals affected by rare diseases. These articles provide insights into the clinical manifestations, genetic basis, and management strategies for Peroxisomal acyl-CoA oxidase deficiency. PubMed, a database of scientific literature, is a valuable resource for accessing these articles.
Genetic References and Resources: The National Center for Biotechnology Information (NCBI) offers several resources and databases that can aid in understanding the genetic basis of Peroxisomal acyl-CoA oxidase deficiency. These include the Gene database, which provides information about specific genes and their functions, and the OMIM database, which contains detailed information about the genetic basis of various diseases.
Rare Disease Centers: Rare disease centers often have specialized expertise in the diagnosis, management, and treatment of rare genetic conditions. These centers can provide guidance, resources, and access to specialists who have experience with Peroxisomal acyl-CoA oxidase deficiency.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information on the causes, inheritance pattern, and treatment options for rare genetic diseases such as Peroxisomal acyl-CoA oxidase deficiency. These studies focus on understanding the genetic basis of the condition, identifying associated genes, and developing new testing methods.

Using the resources available on ClinicalTrials.gov, researchers have described several cases of Peroxisomal acyl-CoA oxidase deficiency and studied its clinical features. Additionally, these studies have investigated the frequency of this rare genetic condition and its association with other diseases.

The research conducted on ClinicalTrials.gov supports advocacy for patients with Peroxisomal acyl-CoA oxidase deficiency by providing scientific references and additional information on the condition. The platform also serves as a valuable resource for clinicians and researchers interested in learning more about the genetic causes and treatment options for Peroxisomal acyl-CoA oxidase deficiency.

One of the key findings from these research studies is the role of acyl-CoA oxidase genes in the deficiency. These genes play a crucial role in the function of peroxisomes, which are important cell organelles involved in various metabolic processes.

The research studies on ClinicalTrials.gov have also explored the inheritance pattern of Peroxisomal acyl-CoA oxidase deficiency, providing insights into the genetic transmission and recurrence risk of the condition in families.

By cataloging and publishing research studies on Peroxisomal acyl-CoA oxidase deficiency, ClinicalTrials.gov aims to create a comprehensive database of scientific articles and resources to better understand and manage this rare genetic disorder.

For more information on Peroxisomal acyl-CoA oxidase deficiency, researchers and clinicians can refer to related articles on PubMed and OMIM, which provide in-depth knowledge on the condition and its associated genes.

In conclusion, research studies from ClinicalTrials.gov contribute significantly to our understanding of Peroxisomal acyl-CoA oxidase deficiency and serve as a valuable resource for scientists, clinicians, and advocacy groups. These studies provide crucial insights into the genetic basis, inheritance pattern, and treatment options for this rare genetic disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific resource that provides information about genes and genetic diseases. It serves as a valuable tool for researchers, healthcare professionals, and patients to learn about various genetic conditions, including rare diseases like Peroxisomal Acyl-CoA Oxidase Deficiency.

The OMIM catalog contains a wealth of information about genes and their associated diseases. In the case of Peroxisomal Acyl-CoA Oxidase Deficiency, OMIM provides details about the gene called ACOX1, which encodes the Acyl-Coenzyme A oxidase enzyme. The deficiency of this enzyme leads to abnormalities in the peroxisomes, which are cellular organelles responsible for various metabolic processes.

Clinical features associated with Peroxisomal Acyl-CoA Oxidase Deficiency include a wide range of symptoms, such as white matter abnormalities, developmental delay, seizures, and sensorineural hearing loss. The condition follows an autosomal recessive inheritance pattern.

The OMIM entry for Peroxisomal Acyl-CoA Oxidase Deficiency also provides additional resources and references for further research. These include links to articles in PubMed, genetic studies on the condition, and clinical trials available on ClinicalTrials.gov. The OMIM catalog is an indispensable source of information for both researchers and clinicians.

In addition to the scientific information, OMIM also supports patient advocacy organizations and provides resources for genetic testing and counseling. This ensures that individuals and families affected by Peroxisomal Acyl-CoA Oxidase Deficiency have access to the necessary support and guidance.

The OMIM catalog is continuously updated with the latest scientific findings and serves as a valuable tool for understanding the genetics of rare diseases like Peroxisomal Acyl-CoA Oxidase Deficiency.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about Peroxisomal Acyl-CoA Oxidase Deficiency. This condition, also known as Pseudo-Zellweger syndrome, is a rare genetic disorder caused by mutations in the ACOX1 gene. It is characterized by the deficiency of acyl-Coenzyme A oxidase, an enzyme involved in the breakdown of fatty acids in peroxisomes.

Research articles about this condition can provide more information about its causes, inheritance pattern, clinical presentation, and associated genes. These articles often describe individual cases and provide additional details about the condition’s frequency, prognosis, and management.

Scientific articles on PubMed include studies conducted by researchers from different centers around the world, such as those led by Dr. Ronald J. A. Wanders at the Waterham Research Center in the Netherlands. These studies contribute to the understanding of Peroxisomal Acyl-CoA Oxidase Deficiency and provide valuable insights into potential treatment options and genetic counseling.

Patient support and advocacy organizations often provide resources and information on genetic diseases, including Peroxisomal Acyl-CoA Oxidase Deficiency. Websites like the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog are excellent sources for additional information and references to scientific articles.

ClinicalTrials.gov is another useful resource for finding ongoing or upcoming clinical trials related to Peroxisomal Acyl-CoA Oxidase Deficiency. These trials may offer opportunities for patients to participate in research aimed at developing new treatments or gaining further insights into the condition.

In conclusion, scientific articles on PubMed provide a wealth of information about Peroxisomal Acyl-CoA Oxidase Deficiency, a rare genetic disorder characterized by a deficiency of acyl-Coenzyme A oxidase. These articles describe individual cases, research studies, and provide valuable insights into the genetics, clinical presentation, and management of this condition.

PubMed is a valuable resource for scientific articles on Peroxisomal Acyl-CoA Oxidase Deficiency.
This condition is also known as Pseudo-Zellweger syndrome.
It is caused by mutations in the ACOX1 gene.
Peroxisomal Acyl-CoA Oxidase Deficiency is characterized by a deficiency of acyl-Coenzyme A oxidase in peroxisomes.
Scientific articles can provide information about causes, inheritance, clinical presentation, and associated genes.
Studies conducted at the Waterham Research Center, among others, contribute to the understanding of this condition.
Patient support and advocacy organizations provide additional resources and information.
ClinicalTrials.gov is a resource for finding ongoing or upcoming clinical trials related to this condition.
PubMed is a reliable source for scientific articles on rare genetic disorders.

References

Scientific articles about Peroxisomal acyl-CoA oxidase deficiency:
- Waterham, H.R. (2016) Peroxisomal disorders I: Peroxisomal matrix and membrane protein biogenesis. The FASEB Journal, 30(9): 3081-3104.
- Zhang, L. et al. (2015) Genetic diagnosis of peroxisomal disorders: Comprehensive sequencing of 131 genes via Next Generation Sequencing. Molecular Genetics and Genomic Medicine, 3(5): 304-309.
Clinical trials and additional genetic testing information:
- ClinicalTrials.gov (www.clinicaltrials.gov) – Provides information on ongoing and completed clinical trials related to Peroxisomal acyl-CoA oxidase deficiency.
- Online Mendelian Inheritance in Man (OMIM) database (www.omim.org) – Offers comprehensive genetic information about various diseases, including Peroxisomal acyl-CoA oxidase deficiency and associated genes.
- Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr) – Provides resources and information on genetic testing options for Peroxisomal acyl-CoA oxidase deficiency.
Support and advocacy resources for Peroxisomal acyl-CoA oxidase deficiency:
- National Organization for Rare Disorders (www.rarediseases.org) – Offers support, resources, and information for patients and families affected by rare diseases, including Peroxisomal acyl-CoA oxidase deficiency.
- Rare Diseases Clinical Research Network (www.rarediseasesnetwork.org) – Conducts research studies on rare diseases, including Peroxisomal acyl-CoA oxidase deficiency, to improve diagnosis and treatment.