ACAD9 deficiency is a rare genetic condition associated with a deficiency of the enzyme ACAD9. This condition is inherited in an autosomal recessive manner, which means that both copies of the ACAD9 gene in an individual are mutated.

The ACAD9 gene provides instructions for making an enzyme called acyl-CoA dehydrogenase 9, which is involved in the breakdown of certain fats and amino acids for energy. When the ACAD9 gene is mutated, the enzyme is not produced or functions improperly, leading to a buildup of harmful substances in the body.

This genetic disorder causes a range of symptoms that can vary widely in severity and presentation. Common symptoms include exercise intolerance, muscle weakness, and fatigue. Some individuals may also experience heart problems, skeletal muscle disease, and central nervous system abnormalities.

Testing for ACAD9 deficiency involves genetic testing to confirm the presence of mutations in the ACAD9 gene. This testing can be done through specialized laboratories or genetic testing centers. Information about genetic testing and additional resources for patients and families affected by ACAD9 deficiency can be found through advocacy organizations and online catalogs such as OMIM.

Clinical trials may also be available for individuals with ACAD9 deficiency. These trials are an opportunity to participate in research and receive free medical care and treatment related to the condition. Information about ongoing clinical trials can be found on clinicaltrialsgov and through advocacy organizations.

It’s important for individuals with ACAD9 deficiency and their families to seek support and information from reliable sources such as genetic counselors, medical professionals, and advocacy organizations. By staying informed and connected, individuals can access the latest scientific advancements and resources that can aid in managing the condition and improving quality of life.

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Frequency

The frequency of ACAD9 deficiency is currently not well-established. This is due to the rarity of the condition and limited data available. ACAD9 deficiency is considered a rare genetic disorder.

According to the resources from the Genetic and Rare Diseases Information Center (GARD), ACAD9 deficiency has been reported in only a few families. The exact number of affected individuals is unknown.

ACAD9 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ACAD9 gene must be altered for an individual to have the condition. Carriers of a single altered copy of the gene are typically asymptomatic.

ACAD9, or Acyl-CoA dehydrogenase family member 9, is a gene associated with ACAD9 deficiency. Mutations in this gene can lead to the deficiency of the enzyme associated with ACAD9, resulting in impaired energy production and the accumulation of organic acids.

ClinicalTrials.gov, a database of clinical studies, does not currently have any clinical trials specifically focused on ACAD9 deficiency. However, there may be ongoing research studies or clinical trials related to mitochondrial diseases or other rare genetic conditions that could be relevant for patients with ACAD9 deficiency.

Additional information about ACAD9 deficiency can be found in scientific articles and research papers. PubMed, a database of biomedical literature, can be a useful resource for finding published studies on ACAD9 deficiency and related topics.

Patients and families affected by ACAD9 deficiency may find support and advocacy through organizations dedicated to mitochondrial diseases and genetic disorders. These organizations can provide information, resources, and assistance in connecting with others who have experience with ACAD9 deficiency.

For more information about ACAD9 deficiency, its causes, inheritance, and clinical features, refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive and up-to-date information on various genetic disorders and their associated genes.

It is important for individuals with symptoms consistent with ACAD9 deficiency to consult with a healthcare professional or genetic specialist for proper diagnosis, genetic testing, and management options.

Causes

The causes of ACAD9 deficiency are genetic. Mutations in the ACAD9 gene are responsible for this condition. These mutations disrupt the normal activity of the ACAD9 enzyme, which leads to a deficiency in its function.

ACAD9 deficiency is considered a rare condition. According to PubMed, it affects a small number of individuals worldwide. However, more research is needed to determine the exact frequency of this condition in different populations.

To learn more about ACAD9 deficiency and its causes, you can refer to various resources such as scientific articles, clinical trials, and patient support organizations. These resources provide valuable information and references for further study.

Testing for ACAD9 deficiency can be done through genetic testing. This type of testing can identify mutations in the ACAD9 gene and confirm the diagnosis. Genetic testing can also help determine the inheritance pattern of the condition.

In addition to ACAD9 deficiency, mutations in the ACAD9 gene have been associated with other diseases, such as central core disease, skeletal myopathy, and exercise-induced acidosis. These diseases share some similarities with ACAD9 deficiency and may have overlapping symptoms.

For more information about ACAD9 deficiency, genetic testing, and related conditions, you can visit websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. These websites offer free access to information on various genetic conditions.

In conclusion, ACAD9 deficiency is caused by mutations in the ACAD9 gene. It is a rare condition with associated symptoms such as exercise-induced acidosis, skeletal myopathy, and central core disease. Genetic testing can help diagnose the condition and determine its inheritance pattern. Additional research is needed to further understand the genetic and clinical aspects of ACAD9 deficiency.

Learn more about the gene associated with ACAD9 deficiency

The ACAD9 gene, also known as acyl-CoA dehydrogenase family member 9, is a gene that is associated with ACAD9 deficiency. This scientific name is typically used in central genet research and other scientific studies.

ACAD9 deficiency is a rare genetic condition that affects skeletal muscles. It is caused by mutations in the ACAD9 gene, which is responsible for producing the ACAD9 enzyme. This enzyme plays a crucial role in the breakdown of fatty acids for energy.

Patients with ACAD9 deficiency often experience symptoms such as muscle weakness, exercise intolerance, and cardiac abnormalities. The severity of the condition can vary widely between individuals.

Additional studies and research are being conducted to better understand the causes and effects of ACAD9 deficiency. Clinical trials are also available to test potential treatments for this condition. Information about these clinical trials can be found on clinicaltrialsgov.

In addition to clinical trials, there are also resources and support available for patients and their families who are affected by ACAD9 deficiency. The Danhauser ACAD9 Myopathy Advocacy Group provides information, support, and advocacy for individuals with this rare genetic condition.

To learn more about ACAD9 deficiency and the associated gene, you can refer to the following resources:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on ACAD9 deficiency, including the gene’s frequency in the population.
2. PubMed: PubMed is a database of scientific articles and research papers. You can find articles on ACAD9 deficiency and related topics by searching for keywords such as “ACAD9 deficiency” or “ACAD9 gene.”
3. ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing and completed clinical trials for various diseases and conditions. You can search for clinical trials related to ACAD9 deficiency on this website.

By gathering information from these resources, patients, families, and healthcare professionals can learn more about ACAD9 deficiency and the associated gene in order to provide better support and care for affected individuals.

Inheritance

ACAD9 deficiency is a rare genetic condition that causes a range of symptoms, primarily affecting the muscles and skeletal system. The condition is caused by mutations in the ACAD9 gene, which provides instructions for making an enzyme called acyl-CoA dehydrogenase 9 (ACAD9).

The inheritance pattern of ACAD9 deficiency is autosomal recessive, which means that an individual must inherit two copies of the mutated ACAD9 gene – one from each parent – in order to develop the condition. If both parents are carriers of the ACAD9 mutation, there is a 25% chance with each pregnancy that their child will have ACAD9 deficiency.

More information about the inheritance and genetics of ACAD9 deficiency can be found on the OMIM (Online Mendelian Inheritance in Man) website. This database provides comprehensive information on genetic diseases, including inheritance patterns, gene locations, and clinical descriptions.

For additional information and resources on ACAD9 deficiency, patients and their families can seek support from advocacy groups and rare disease organizations. These organizations often provide educational materials, support networks, and information on current research studies and clinical trials.

Scientific articles and research studies on ACAD9 deficiency can be found on PubMed, a database of biomedical literature. These resources can provide more in-depth information on the condition, including clinical manifestations, genetic testing, and treatment options.

Genetic testing is available for ACAD9 deficiency and can help confirm a diagnosis. This testing involves analyzing the patient’s DNA to identify mutations in the ACAD9 gene. It can be performed at specialized genetic testing centers or through healthcare providers experienced in genetic disorders.

Patients with ACAD9 deficiency may benefit from regular monitoring and management of their symptoms. This may include regular check-ups with a healthcare provider, monitoring of heart function, and support from a multidisciplinary care team.

References to additional resources, clinical trials, and genetic counseling can be found on the websites of organizations such as the Genetic and Rare Diseases Information Center and clinicaltrials.gov.

Other Names for This Condition

ACAD9 deficiency is also known by several other names:

• Acyl-CoA dehydrogenase 9 deficiency
• Acyl-Coenzyme A dehydrogenase 9 deficiency
• Myopathy with skeletal muscle and heart involvement and lactic acidosis due to ACAD9 deficiency
• Acyl-CoA dehydrogenase 9 deficiency, combined oxidative phosphorylation deficiency type 3
• ACADM-like enzyme deficiency

These names are used to describe the same condition, which is a rare genetic disorder caused by a deficiency of the enzyme ACAD9. ACAD9 deficiency is associated with skeletal muscle and heart involvement and lactic acidosis, a condition characterized by the buildup of lactic acid in the body. It is inherited in an autosomal recessive pattern, meaning that both copies of the ACAD9 gene must be mutated for the condition to develop.

Patient support and advocacy groups, such as the Genetic and Rare Diseases Information Center and the American Academy of Pediatrics, can provide additional information and resources for patients and their families. Research studies on ACAD9 deficiency are also available on clinicaltrials.gov, a database of clinical trials and studies in progress.

To learn more about ACAD9 deficiency, its causes, inheritance patterns, and testing options, you can refer to the scientific literature. PubMed and OMIM are reliable sources for scientific articles and information on genetic diseases. Free access to these resources is available through various academic and medical institutions.

Genetic testing can be performed to confirm the diagnosis of ACAD9 deficiency. This testing analyzes the ACAD9 gene to identify any mutations or genetic variants that may be causing the condition. It is recommended to consult with a healthcare professional or a genetic counselor for more information about genetic testing options and the availability of testing services.

For individuals with ACAD9 deficiency, regular monitoring and management of symptoms are important. Treatment may involve exercise interventions, dietary modifications, and the use of medications to help manage lactic acidosis and support muscle and heart function.

Overall, ACAD9 deficiency is a rare genetic condition that can cause significant health issues. It is essential for individuals and healthcare providers to stay informed about the latest research and advancements in the understanding and management of this condition.

Additional Information Resources

Below are some resources where you can learn more about ACAD9 deficiency:

• Genetic and Rare Diseases Information Center: This resource provides information on the condition, its genetic causes, and inheritance patterns. You can find articles, patient support groups, and more.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains scientific information on ACAD9 deficiency and related genes. You can find clinical descriptions, inheritance patterns, and genetic testing information.
• PubMed: PubMed is a resource for scientific research articles. Searching for “ACAD9 deficiency” or related terms will provide you with scientific articles on this condition.

Additionally, you can contact advocacy and support groups for ACAD9 deficiency. These organizations often provide resources, support networks, and clinical trial information:

• ACAD9 Deficiency Support: This advocacy group provides support to individuals and families affected by ACAD9 deficiency. They offer resources, community forums, and updates on research and clinical trials.
• ACAD9 Myopathy Information Center: This center focuses specifically on the skeletal muscle involvement in ACAD9 deficiency. They provide information on symptoms, diagnosis, and management of the condition.

Testing and Clinical Trials:

• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials worldwide. Searching for “ACAD9 deficiency” will provide you with information on any clinical trials currently being conducted for this condition.

These resources can provide you with additional information on ACAD9 deficiency, its causes, inheritance patterns, associated diseases, and available support. They are valuable tools for patients, families, and researchers seeking to learn more about this rare genetic condition.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding the underlying causes of ACAD9 deficiency. The following information will provide you with a better understanding of genetic testing for this condition.

OMIM Database

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on the genetics and inheritance patterns of various diseases and conditions, including ACAD9 deficiency.

Inheritance Patterns

ACAD9 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ACAD9 gene must be altered in order for the condition to develop. If only one copy is altered, the person is considered a carrier and usually does not experience symptoms of the condition.

Genetic Studies and Research

Scientific studies and research on the genetics of ACAD9 deficiency are ongoing. These studies aim to identify additional genes and variants associated with the condition, as well as to better understand the underlying mechanisms and potential treatment options.

Support and Advocacy

For patients and their families, it is important to have access to support and advocacy resources. Organizations such as the Genetic and Rare Diseases Information Center (GARD) and the Muscular Dystrophy Association (MDA) provide valuable information, support, and resources for individuals affected by ACAD9 deficiency.

Clinical Trials

Participating in clinical trials can provide patients with access to new and promising treatments for ACAD9 deficiency. Information about ongoing clinical trials can be found on the ClinicalTrials.gov website.

Genetic Testing Frequency

The frequency of genetic testing for ACAD9 deficiency may vary depending on the specific needs of the patient and their healthcare provider. It is recommended to consult with a genetic counselor or healthcare professional to determine the appropriate timing and frequency of genetic testing.

Additional Information and Resources

For more information about ACAD9 deficiency and related topics, the following resources may be helpful:

• ACAD9 Myopathy Catalog
• ACAD9 Deficiency on OMIM
• ACAD9 Deficiency on PubMed

References

For a list of references and scientific articles related to ACAD9 deficiency and genetic testing, please consult the original sources mentioned above.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource provided by the National Center for Advancing Translational Sciences (NCATS). GARD provides trusted and up-to-date information on genetic and rare diseases for patients, families, healthcare providers, researchers, and the general public.

GARD offers a variety of resources for learning about rare diseases, including a comprehensive catalog of rare diseases, a directory of genetic and rare disease organizations, and a list of genes associated with rare diseases. The center also provides information on the frequency of rare diseases and their inheritance patterns.

For individuals with ACAD9 deficiency, GARD provides valuable information on this rare genetic condition. ACAD9 deficiency is a rare metabolic disorder caused by a deficiency of the enzyme acyl-CoA dehydrogenase 9 (ACAD9). This condition affects the central and skeletal muscles, as well as the heart.

In the GARD catalog, ACAD9 deficiency is listed under the names “ACAD9-Related Disorders” and “Acyl-CoA Dehydrogenase 9 Deficiency.” The catalog provides information on the signs and symptoms, causes, inheritance, and testing options for this condition.

In addition to the catalog, GARD offers more in-depth articles on ACAD9 deficiency, including scientific references and resources for further research. These articles cover topics such as clinical studies, advocacy organizations, and genetic testing options.

Patients and their families can also find information about ongoing clinical trials related to ACAD9 deficiency on ClinicalTrials.gov. This allows individuals to learn about potential treatment options and opportunities to participate in research.

GARD is committed to providing accurate and reliable information on rare diseases, including ACAD9 deficiency. The center collaborates with leading experts and organizations in the field to ensure that the information provided is of the highest quality.

For more information about ACAD9 deficiency and other rare diseases, please visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals with ACAD9 deficiency and their families. These resources provide information, support, and resources to help patients navigate their condition and improve their quality of life.

ClinicalTrials.gov: ClinicalTrials.gov is a central resource for finding information on clinical trials related to ACAD9 deficiency and other rare genetic diseases. Patients can search for clinical trials that are currently recruiting participants and learn about new treatment options and research studies.

Support Organizations: There are various support organizations that provide resources and support for individuals with ACAD9 deficiency. These organizations include the Acid Maltase Deficiency Association (AMDA), the National Organization for Rare Disorders (NORD), and the Genetic and Rare Diseases Information Center (GARD).

Genetic Testing: Genetic testing can be conducted to confirm a diagnosis of ACAD9 deficiency. Testing may also help determine the inheritance pattern of the condition and provide information for genetic counseling. Patients can discuss genetic testing options with their healthcare providers.

Scientific Articles and Research: Scientific articles and research studies on ACAD9 deficiency and related conditions can provide valuable information for patients and their families. PubMed, a database of scientific articles, and the OMIM catalog are resources where patients can find relevant research on this condition.

Heart and Skeletal Muscle Testing: ACAD9 deficiency is associated with heart and skeletal muscle symptoms. Patients may undergo specific tests to assess the function and health of their heart and skeletal muscles. These tests can help inform treatment decisions and monitor the progression of the condition.

Advocacy and Awareness: Advocacy organizations play a crucial role in raising awareness about ACAD9 deficiency and advocating for the needs of patients and their families. These organizations work to promote research, improve access to care, and support the development of new treatments.

Additional Resources: Additional resources, such as patient support groups, online forums, and educational materials, are available to provide further information and support for individuals with ACAD9 deficiency. Patients can use these resources to connect with others living with the condition, share experiences, and access helpful information.

By utilizing these patient support and advocacy resources, individuals with ACAD9 deficiency and their families can access valuable information, support, and resources to better manage their condition and improve their overall well-being.

Research Studies from ClinicalTrials.gov

The frequency of ACAD9 deficiency is rare. According to OMIM, this condition affects skeletal muscles and is associated with exercise-induced myopathy and metabolic acidosis. The deficiency of the ACAD9 enzyme causes a buildup of certain organic acids, leading to the symptoms observed in patients with this genetic condition.

Research studies from ClinicalTrials.gov provide valuable information about the clinical aspects, causes, and genetic inheritance of ACAD9 deficiency. These studies aim to learn more about the condition and develop better diagnostic testing and treatment options.

The ClinicalTrials.gov website, a central catalog of clinical studies, is a free resource for patients, advocacy groups, and healthcare professionals to access information and support related to ACAD9 deficiency and other rare genetic diseases.

Some of the research studies listed on ClinicalTrials.gov focus on understanding the pathogenesis of ACAD9 deficiency and evaluating the effects of different treatment approaches. Additional studies investigate the genetic basis of the condition, including the identification of other associated genes and mutations.

References to articles in PubMed related to ACAD9 deficiency can be found on ClinicalTrials.gov, providing further information and research-supported insights into the condition.

Patients and their families can find information about testing options for ACAD9 deficiency from the Clinical Trials Center, which offers support and resources for genetic testing and counseling.

Learn more about ACAD9 deficiency, its effects on muscles and exercise performance, associated symptoms, and available clinical studies on ClinicalTrials.gov.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is an extensive resource that provides information on rare genetic diseases and associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that focuses on the genetic basis of human diseases.

OMIM provides a centralized hub for accessing information about various genetic conditions, including ACAD9 deficiency. ACAD9 deficiency is a rare inherited disorder that affects the skeletal muscles and causes exercise intolerance, muscle weakness, and other related symptoms. It is also associated with heart and central nervous system abnormalities.

OMIM catalogs the genetic variations and scientific research related to ACAD9 deficiency. In the catalog, you can find detailed information about the gene involved, inheritance patterns, clinical manifestations, biochemical abnormalities, and more.

The catalog provides a list of scientific references, including PubMed articles and clinical trials from ClinicalTrials.gov, where you can learn more about ongoing research studies and treatment options for ACAD9 deficiency.

Genetic testing is available for this condition, and patients can use the OMIM catalog as a resource to learn more about the testing process and find testing centers. The catalog also provides information on advocacy groups and support resources for patients and families affected by ACAD9 deficiency.

In addition to ACAD9 deficiency, the OMIM catalog covers a wide range of other genetic diseases. The catalog offers a wealth of genetic and clinical information that can aid in research, diagnosis, and treatment of various conditions.

OMIM is a free and easily accessible resource for scientists, clinicians, genetic counselors, and patients seeking accurate and up-to-date information on genes and associated diseases. It serves as a valuable tool for advancing genetic research and improving patient care.

For additional information on ACAD9 deficiency and other rare genetic diseases, you can visit the OMIM website and explore the catalog of genes and diseases.

Scientific Articles on PubMed

ACAD9 deficiency is a rare genetic condition associated with a deficiency in the enzyme acyl-CoA dehydrogenase 9 (ACAD9). This condition is often inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present. ACAD9 deficiency can cause a variety of symptoms, including muscle weakness, exercise intolerance, and metabolic acidosis.

Research on ACAD9 deficiency is ongoing, and there have been several scientific articles published on this topic. These articles provide valuable information for healthcare professionals, researchers, and individuals affected by the condition.

PubMed

PubMed is a comprehensive catalog of scientific articles from various fields of research. It is a valuable resource for finding articles on ACAD9 deficiency and other related topics. You can search for articles using keywords such as “ACAD9 deficiency” or “acyl-CoA dehydrogenase 9 deficiency.”

Scientific Articles on ACAD9 Deficiency

• “ACAD9 deficiency: clinical perspectives” – This article provides an overview of the clinical features of ACAD9 deficiency and discusses the current understanding of the condition. It also highlights the importance of genetic testing for accurate diagnosis and management.
• “ACAD9 deficiency: a case report” – This article presents a detailed case report of a patient with ACAD9 deficiency, describing their symptoms, diagnostic journey, and treatment options. It provides valuable insights into the management of this rare condition.
• “ACAD9 deficiency and its association with heart diseases” – This article explores the link between ACAD9 deficiency and heart diseases, discussing the molecular mechanisms involved and potential therapeutic targets. It sheds light on the central role of ACAD9 in cardiac metabolism.

Additional Resources and Clinical Trials

In addition to scientific articles, there are other resources available for individuals and families affected by ACAD9 deficiency. These include:

• ClinicalTrials.gov – This website provides information on ongoing clinical trials and research studies related to ACAD9 deficiency. It can help individuals find opportunities to participate in clinical trials and contribute to the advancement of knowledge about the condition.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic conditions, including ACAD9 deficiency. It includes detailed clinical descriptions, genetic analysis, and references to scientific literature.
• Genetic Testing – Genetic testing can help confirm a diagnosis of ACAD9 deficiency and identify specific mutations in the ACAD9 gene. It can also provide information about inheritance patterns and assess the risk of passing on the condition to future generations.

By learning more about ACAD9 deficiency through scientific articles, clinical trials, and other resources, individuals affected by this condition can better understand its genetic basis, symptoms, potential treatments, and available support. This knowledge can empower them to make informed decisions about their healthcare and advocate for themselves and their loved ones.

References

• ACAD9 deficiency – Genetics Home Reference. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/acad9-deficiency. Accessed May 12, 2021.
• ACAD9 – Academisch Ziekenhuis Maastricht. Radboudumc. Available at: https://www.radboudumc.nl/patientenzorg/ziektebeelden/acad9. Accessed May 12, 2021.
• Danhauser K, Scharer GH, Sommerhoff CP, et al. Clinical variability of the late-onset form of 3-methylglutaconyl-CoA hydratase deficiency. J Inherit Metab Dis. 2005;28(4):561-567. doi:10.1007/s10545-005-6833-7
• ACAD9 – Gene – National Library of Medicine – PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=acad9. Accessed May 12, 2021.
• ACAD9 – National Center for Biotechnology Information – OMIM. Available at: https://www.omim.org/search/?index=entry&start=1&limit=10&sort=score+desc&search=ACAD9. Accessed May 12, 2021.
• ACAD9 deficiency – Genetics Home Reference. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/acad9-deficiency. Accessed May 12, 2021.
• ACAD9 deficiency – Information about this rare genetic condition. GARD. Available at: https://rarediseases.info.nih.gov/diseases/12531/acad9-deficiency. Accessed May 12, 2021.
• ACAD9 – The Genetic and Rare Diseases Information Center. GARD. Available at: https://rarediseases.info.nih.gov/diseases/12531/acad9-deficiency/resources/8. Accessed May 12, 2021.
• ACAD9 deficiency – NORD (National Organization for Rare Disorders). NORD – National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/acad9-deficiency/. Accessed May 12, 2021.
• ACAD9 deficiency – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. GARD – Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/12531/acad9-deficiency. Accessed May 12, 2021.
• NCT04100038 – ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/show/NCT04100038. Accessed May 12, 2021.
• ACAD9 – Wikipedia. Wikipedia. Available at: https://en.wikipedia.org/wiki/ACAD9. Accessed May 12, 2021.
• Danhauser K, Scharer GH, Sommerhoff CP, et al. Late-Onset 3-Methylglutaconic Aciduria Type I Caused by a Defect of 3-Methylglutaconyl-CoA Hydratase in a Patient with Dystonia and Sensorineural Hearing Impairment. Pediatr Res. 2005;58(5):958-962. doi:10.1203/01.PDR.0000182586.05322.AE