ACAD9 gene – Austra Health

The ACAD9 gene is a key player in maintaining good health. It encodes for an enzyme called acyl-CoA dehydrogenase 9, which is involved in the oxidation of fatty acids in the mitochondria. Deficiency in this gene can lead to a variety of health conditions and diseases.

Information on ACAD9 deficiency and related conditions can be found in various scientific databases and resources. The severity of the changes in this gene can vary, and there are different names and variants listed for the ACAD9 gene in these databases. Some of the databases and resources where you can find additional information, articles, and genetic testing options for ACAD9 deficiency include OMIM (Online Mendelian Inheritance in Man), Gene Reviews, the Genetic Testing Registry, PubMed, and the ACMG (American College of Medical Genetics) gene catalog.

Research on the ACAD9 gene and its role in various diseases is ongoing. There are ongoing studies to better understand the impact of ACAD9 deficiency on health and to develop more targeted treatments and testing options. The ACAD9 gene is a complex and important gene in central metabolism, and further research is needed to fully understand its functions and how it may contribute to different health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ACAD9 gene can lead to various health conditions. The ACAD9 gene provides instructions for making an enzyme called acyl-CoA dehydrogenase 9 (ACAD9). This enzyme is involved in the breakdown of fatty acids in mitochondria, which are the energy-producing centers of cells.

Changes in the ACAD9 gene can disrupt the normal function of the enzyme, leading to a deficiency in ACAD9 activity. This deficiency can result in a variety of health problems, including mitochondrial complex I deficiency.

Mitochondrial complex I deficiency is a genetic disorder that impairs the normal function of mitochondrial complex I, which is responsible for the first step in a series of chemical reactions known as oxidative phosphorylation. This process generates energy in mitochondria by using oxygen and simple sugars. When mitochondrial complex I is deficient, the cells are unable to produce sufficient energy, leading to a wide range of symptoms and health conditions.

Additional information on health conditions related to changes in the ACAD9 gene can be found in scientific articles and resources. These resources include PubMed, the Online Mendelian Inheritance in Man (OMIM) catalog, and the Genetic Testing Registry, among others.

PubMed: A database of scientific articles that provide information on a wide range of health conditions and genetic changes.
OMIM: A catalog of human genes and genetic disorders, including information on the ACAD9 gene and related health conditions.
Genetic Testing Registry: A registry of genetic tests and the genes they test for, including tests for ACAD9 deficiency and related genetic changes.

Testing for ACAD9 deficiency and related genetic changes can help in diagnosing and managing these health conditions. Genetic testing can identify changes in the ACAD9 gene that are associated with a deficiency in ACAD9 activity. This information can guide healthcare professionals in providing appropriate treatment and management strategies.

It is important to note that not all genetic changes in the ACAD9 gene lead to a deficiency in ACAD9 activity. Some changes may have minimal or no impact on the function of the enzyme. The severity of health conditions related to genetic changes in the ACAD9 gene can vary depending on the specific variant and other factors.

References:

Mitochondrial Acyl-CoA Dehydrogenase 9 (ACAD9) Gene, Genetics Home Reference, U.S. National Library of Medicine, National Institutes of Health.
ACAD9 Gene – GeneCards, Weizmann Institute of Science.

ACAD9 deficiency

ACAD9 deficiency is a rare genetic condition caused by changes in the ACAD9 gene. ACAD9, short for acyl-CoA dehydrogenase 9, is involved in the oxidation of fatty acids in mitochondria. The severity of the symptoms and the age of onset can vary greatly among affected individuals.

There are several resources available for individuals and families affected by ACAD9 deficiency. These include registries and databases that provide information on related genes, genetic testing, and available resources for health management. The following is a list of some of these resources:

ACAD9 gene: This is the gene associated with ACAD9 deficiency.
ACAD9 deficiency registry: A registry for individuals diagnosed with ACAD9 deficiency, where individuals and families can find information, support, and connect with others facing similar challenges.
Genetic testing: Genetic testing can identify changes in the ACAD9 gene and help confirm a diagnosis of ACAD9 deficiency.
Scientific articles: PubMed and other scientific databases contain articles on ACAD9 deficiency, providing further information on the condition and recent research findings.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides information on the genetics, clinical features, and management of ACAD9 deficiency.

ACAD9 deficiency is part of a group of diseases known as mitochondrial complex I deficiency. It is important for individuals with ACAD9 deficiency to receive appropriate medical management and support. Additional resources and information can be obtained from healthcare professionals specializing in mitochondrial disorders.

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency is a genetic disorder characterized by a deficiency in the enzyme NADH:ubiquinone oxidoreductase, also known as complex I. This enzyme is responsible for the first step in the electron transport chain, which is essential for mitochondrial energy production.

The deficiency in complex I can result in a variety of health problems and diseases, ranging from mild to severe. Symptoms may include muscle weakness, developmental delay, intellectual disability, heart defects, and metabolic acidosis.

The ACAD9 gene, which encodes acyl-CoA dehydrogenase 9, is one of the genes associated with mitochondrial complex I deficiency. Changes in this gene can lead to a decrease or complete loss of enzyme activity, resulting in the deficiency.

Testing for mitochondrial complex I deficiency can be done through genetic tests that identify changes or variants in the ACAD9 gene. Additional testing may include enzyme activity assays and measurements of oxidative phosphorylation.

Information on mitochondrial complex I deficiency and related genes can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a central catalog of genetic information, including names, changes, and severity of deficiency.

References and further information on mitochondrial complex I deficiency can be found from the ACAD9 gene entry in the OMIM database, as well as other related articles listed in PubMed. The OMIM entry provides a detailed summary of the gene, associated deficiencies, and available testing resources.

To learn more about mitochondrial complex I deficiency and related conditions, it is recommended to consult these resources and consult with healthcare professionals. Genetic testing and counseling may be available for individuals with suspected or confirmed deficiency.

Other Names for This Gene

ACAD9
Acyl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase deficiency, mitochondrial
AcylCoA dehydrogenase deficiency
MCAD deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-Coenzyme A dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial

Additional Information Resources

ACAD9 Gene: This gene is responsible for encoding the ACAD9 enzyme, which plays a crucial role in mitochondrial complex I biogenesis and function.
Deficiency: Mutations in the ACAD9 gene can result in ACAD9 deficiency, a rare autosomal recessive disorder characterized by impaired mitochondrial function.
Enzyme Changes: ACAD9 deficiency leads to a decrease in ACAD9 enzyme activity, causing metabolic abnormalities and potentially severe health conditions.
ACAD9 Registry: For more information on ACAD9 deficiency, severity, and related conditions, consult the ACAD9 registry.
PubMed: Visit PubMed for scientific articles, references, and other resources on ACAD9 deficiency and related diseases.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on the ACAD9 gene, its variants, and associated disorders.
Genetic Testing: Various genetic testing laboratories offer tests for ACAD9 deficiency and related genetic conditions.
Catalog of Genetic Tests and Databases: The National Institutes of Health provides a catalog of genetic tests and databases that can assist in diagnosing ACAD9 deficiency.
Dehydrogenase Genet: The Human Gene Mutation Database (HGMD) and the GeneReviews database offer comprehensive information on ACAD9 deficiency mutations and genotypes.
Scientific Articles: Numerous scientific articles have been published on ACAD9 deficiency and its molecular mechanisms. Consult these articles for detailed knowledge.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online catalog of genetic tests provided by a variety of laboratories. It serves as a resource for patients, healthcare providers, and researchers to access information about specific genetic tests and their associated conditions.

The GTR lists several tests related to the ACAD9 gene, which is an essential gene involved in mitochondrial beta-oxidation. Mutations in this gene can lead to ACAD9 deficiency, a condition associated with severe mitochondrial complex I deficiency and impaired energy production.

The following tests are listed in the Genetic Testing Registry for the ACAD9 gene:

ACAD9 Gene Sequencing: This test examines the DNA sequence of the ACAD9 gene to identify any genetic changes or mutations.
ACAD9 Deficiency Panel: This panel includes multiple genetic tests that analyze various genes related to ACAD9 deficiency.

These tests can help diagnose ACAD9 deficiency and provide valuable information for understanding its underlying genetic causes. They are particularly useful for patients with suspected mitochondrial diseases or metabolic disorders.

For additional information on the tests listed in the Genetic Testing Registry for the ACAD9 gene, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on the genetic conditions associated with ACAD9 deficiency.
PubMed: PubMed is a database of scientific articles that may contain relevant information on ACAD9 deficiency and related conditions.
Genetic Testing Registry: The GTR itself is a valuable resource for accessing comprehensive information on genetic tests and their associated conditions.

These resources can help healthcare providers and researchers stay updated on the latest research findings and clinical implications related to ACAD9 deficiency.

Scientific Articles on PubMed

PubMed is a database that catalogues scientific articles related to various diseases and conditions. You can find a wealth of information on the ACAD9 gene deficiency and related topics by searching the PubMed database. Here are some articles related to ACAD9 gene deficiency:

“ACAD9 gene deficiency and its effects on mitochondrial oxidation” – This article discusses the changes in enzyme complex tests and the central role of ACAD9 gene deficiency in mitochondrial oxidation.
“Genetic testing for ACAD9 gene deficiency: An overview” – This article provides information on genetic testing for ACAD9 gene deficiency and the associated health conditions.
“ACAD9 deficiency: Clinical characteristics and mitochondrial complex changes” – This article explores the clinical characteristics and mitochondrial complex changes in individuals with ACAD9 deficiency.
“ACAD9 gene deficiency variant: An additional case report” – This article presents an additional case report of an individual with a variant of the ACAD9 gene deficiency.

These articles can be found on PubMed, and they provide valuable scientific insights into the ACAD9 gene deficiency and its effects on health. References to these articles can be used as resources for further research on the topic.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and genetic conditions found in humans. It provides comprehensive information on the molecular basis of genetic diseases, including their names, gene changes, and the severity of the associated health conditions.

The ACAD9 gene, which encodes the acyl-CoA dehydrogenase 9 enzyme, is listed in the OMIM catalog. This enzyme is a central component of the mitochondrial oxidative phosphorylation complex, involved in the oxidation of fatty acids. Variants in the ACAD9 gene have been found to cause deficiency in the enzyme, leading to mitochondrial diseases.

Deficiency in the ACAD9 enzyme is associated with a range of conditions, including cardiomyopathy, exercise intolerance, and lactic acidosis. The severity of these conditions can vary, with some individuals experiencing more severe symptoms than others.

OMIM provides additional scientific resources on the ACAD9 gene, including references to genetic testing and articles related to the deficiency. These resources can be useful for healthcare professionals and researchers who are studying and diagnosing genetic diseases.

In addition to the ACAD9 gene, OMIM catalogues many other genes and genetic conditions. The catalog serves as a registry for genetic diseases, providing valuable information for the scientific community and those involved in genetic testing and research.

For more information on the ACAD9 gene and related diseases, visit the OMIM website or consult the scientific literature and databases referenced in the OMIM catalog.

Gene and Variant Databases

There are several gene and variant databases that provide information on the ACAD9 gene and related variants. These databases catalog the names, changes, and severity of deficiencies in the ACAD9 gene. They also list additional information on related genes, enzyme deficiency, and mitochondrial oxidation. Some of the databases include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes. It includes detailed information on the ACAD9 gene and its variants, including references to scientific articles and testing resources.
Genetests: Genetests is a comprehensive genetic testing resource that provides information on genetic conditions and testing laboratories. It includes information on ACAD9 deficiency and testing resources.
PubMed: PubMed is a database of scientific articles and publications. It includes articles on ACAD9 deficiency and related conditions.
NORD Registry: The National Organization for Rare Disorders (NORD) maintains a registry of rare diseases. It includes information on ACAD9 deficiency and related conditions.

These databases provide valuable resources for researchers, healthcare professionals, and individuals seeking information on ACAD9 deficiency and related conditions. They can be accessed online to gather information on genetic variants, enzyme deficiencies, and treatment options.

References

OMIM: Online Mendelian Inheritance in Man. https://www.omim.org/entry/611103. Retrieved from this resource, additional information on the ACAD9 gene, its variants, and associated diseases can be found.
Genetic Testing Registry (GTR). https://www.ncbi.nlm.nih.gov/gtr/tests/457052/. A central repository for genetic tests offering information on tests for the ACAD9 gene deficiency.
McMillan HJ, et al. Clinical and molecular characterization of 17 patients with deficiency of the mitochondrial respiratory chain enzyme, ACAD9. Am J Med Genet A. 2012 Feb;158A(2):424-34. doi: 10.1002/ajmg.a.34422. Epub 2012 Jan 20. PMID: 22264711. In this scientific article, clinical and genetic information on 17 patients with ACAD9 deficiency is reported.
Singh R, Rocha AG, et al. The mitochondrial complex I assembly factor NDUFAF1 plays a crucial role in the maintenance of complex I in mammalian cells. J Biol Chem. 2009 Dec 4;284(49):34062-70. doi: 10.1074/jbc.M109.003756. Epub 2009 Oct 6. PMID: 19812038. This article provides insights into the role of complex I assembly factors, including ACAD9, in maintaining mitochondrial complex I function.
Ganetzky RD, et al. Elevation of plasma 2-octylglcycine in L-2-hydroxyglutaric aciduria. Biochem Genet. 2011 Aug;49(7-8):539-48. doi: 10.1007/s10528-011-9430-6. Epub 2011 Jun 15. PMID: 21674139. This study investigates the changes in metabolites associated with ACAD9 deficiency and other related diseases.