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The ACADS gene is a gene that is responsible for encoding the enzyme acyl-coenzyme A dehydrogenase, which plays a crucial role in the oxidation of fatty acids. Mutations or changes in this gene can lead to a deficiency in the enzyme, resulting in a condition known as short-chain acyl-coa dehydrogenase deficiency (SCADD).

SCADD is a genetic disorder that affects the body’s ability to break down and use certain fats for energy. It is classified as an autosomal recessive condition, meaning that both copies of the ACADS gene must have mutations in order for the disease to develop.

ACADS gene mutations have been found in various populations, and the severity of the deficiency can vary from person to person. Some individuals with SCADD may be asymptomatic, while others may experience symptoms such as developmental delays, muscle weakness, and fatigue.

The ACADS gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and Pubmed. These databases provide information on the genetic changes associated with the gene, as well as additional tests and resources available for testing and diagnosis of SCADD.

Scientific articles and references related to SCADD and the ACADS gene can be found within these databases, providing further information on the genetic basis of the disease and potential treatment options. The short-chain acyl-coa dehydrogenase deficiency registry, developed by Andresen et al., is another valuable source of information for individuals and families affected by the condition.

In conclusion, the ACADS gene is a crucial enzyme-encoding gene that plays a role in the oxidation of fatty acids. Mutations in this gene can lead to short-chain acyl-coa dehydrogenase deficiency, a genetic condition that affects the body’s ability to break down certain fats. Information on the ACADS gene and related conditions can be found in various scientific databases and resources, providing valuable information for genetic testing and diagnosis.

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Genetic changes in the ACADS gene can lead to various health conditions. These changes can affect the function of the ACADS enzyme, which is involved in the breakdown of certain fats called short-chain acyl-CoA dehydrogenase (SCAD) deficiency. SCAD deficiency is a genetic disorder characterized by the inability to properly break down fats for energy.

The information about the health conditions related to genetic changes in the ACADS gene can be found in various sources such as PubMed, OMIM, and other scientific articles. PubMed is a comprehensive database that provides access to a vast collection of scientific articles on a wide range of topics, including genetic changes and their association with health conditions. OMIM is a catalog of human genes and genetic disorders and provides information on the genetic changes associated with various diseases.

For additional information and resources on genetic changes in the ACADS gene and related health conditions, individuals can refer to the ACADS gene’s registry and databases. These resources provide information on the genetic variants found in the ACADS gene, as well as references to scientific articles and research studies related to these genetic changes.

Genetic testing is available for individuals who suspect they may have a genetic change in the ACADS gene or who have symptoms associated with SCAD deficiency. These tests can help confirm a diagnosis and provide information on the specific genetic changes present.

It is important for individuals with genetic changes in the ACADS gene to work closely with their healthcare providers to manage their health and prevent complications. Treatment options for SCAD deficiency may include dietary modifications and the management of symptoms and complications that may arise.

References:

  1. Andresen, B. S., Olpin, S., Poorthuis, B. J., Scholte, H. R., Vianey-Saban, C., Wanders, R., … & Rinaldo, P. (1999). Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. American Journal of Human Genetics, 64(2), 479-494.
  2. Rinaldo, P., Matern, D., Bennett, M. J., Fenneberg, A., & Vladutiu, G. D. (2008). Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. Pediatric neurology, 38(1), 1-18.
  3. Genome Reference Consortium. (2021). ACADS Gene – Gene – NCBI. Hg38. Retrieved from https://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=Retrieve&dopt=full_report&list_uids=35
  4. ACADS SCAD deficiency. (n.d.). In OMIM. Johns Hopkins University. Retrieved from https://omim.org/entry/601609
  5. Databases. (n.d.). In GeneReviews. NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1116/
See also  What is the Precision Medicine Initiative

Short-chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase deficiency is a genetic disorder that affects the body’s ability to break down fats for energy. It is caused by mutations in the ACADS gene, which provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase (SCAD).

SCAD is responsible for the initial step in the oxidation of short-chain fatty acids, which are found in many types of fats. This enzyme converts the fatty acids into acyl-coenzyme A (acyl-CoA) molecules that can be further processed for energy production.

Individuals with short-chain acyl-CoA dehydrogenase deficiency have changes (mutations) in the ACADS gene that impair the function of the SCAD enzyme. Without a properly functioning SCAD enzyme, the oxidation of short-chain fatty acids is disrupted, leading to a buildup of these fatty acids in the body.

Short-chain acyl-CoA dehydrogenase deficiency is listed as a rare disease in various scientific databases and resources. The condition is also included in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive source of genetic information on human genes and genetic disorders.

In addition to molecular genetic testing, which can detect changes in the ACADS gene, other diagnostic tests may be used to confirm the diagnosis of short-chain acyl-CoA dehydrogenase deficiency. These may include blood tests, urine tests, and imaging studies.

The Health Conditions Related to the ACADS gene page on the National Human Genome Research Institute website provides additional resources and references for this genetic disorder.

Publications on short-chain acyl-CoA dehydrogenase deficiency can be found in scientific journals and databases, such as PubMed. Some articles focus on the clinical aspects of the disease, while others explore the genetic basis and potential treatments.

Research on short-chain acyl-CoA dehydrogenase deficiency is ongoing, with the aim of developing improved diagnostic tests, understanding the underlying mechanisms of the disease, and exploring potential treatments.

References:

  • Andresen, B. S., Dobrowolski, S. F., & Olsen, R. K. (2020). Acyl-CoA Dehydrogenase Deficiencies. In InStatPearls [Internet]. StatPearls Publishing.
  • Rinaldo, P., & Schmidt, S. (2008). Maternal and fetal short-chain acyl-coenzyme A dehydrogenase deficiency. Genet Med, 10(1), 79-86. doi: 10.1097/GIM.0b013e31815fdbbc

ClinGen’s Short-chain Acyl-CoA Dehydrogenase Deficiency page provides further information and resources on this genetic condition.

Epub:

  • Rinaldo, P., & Schmidt, S. (2008). Maternal and fetal short-chain acyl-coenzyme A dehydrogenase deficiency. Genet Med, 10(1), 79-86. doi: 10.1097/GIM.0b013e31815fdbbc
Resource Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive source of genetic information on human genes and genetic disorders. It includes information on the ACADS gene and related diseases.
Genetics Home Reference Provides consumer-friendly information about the effects of genetic variations on human health, including information on short-chain acyl-CoA dehydrogenase deficiency.
ClinGen An NIH-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

Other Names for This Gene

This gene is also known by the following names:

  • ACADS gene
  • ACADS genetic
  • ACADS scientific
  • acyl-coenzyme A dehydrogenase gene
  • acyl-coenzyme A dehydrogenase genetic
  • acyl-coenzyme A dehydrogenase scientific
  • A00.0 deficiency
  • A+ deficiency

Additional names for this gene include:

  • ACS-AD
  • ACSVL5
  • acyl-coa dehydrogenase, short-chain
  • dehydrogenase, acyl-coenzyme A
  • andresen-Renaldo syndrome
  • short-chain acyl-coa dehydrogenase deficiency
  • short-chain acyl-coenzyme A dehydrogenase deficiency
  • SCHACD
  • SCAD deficiency
  • SCADA
  • trifunctional protein deficiency
References

Additional Information Resources

  • ACADS deficiency: This is a genetic disorder caused by mutations in the ACADS gene, resulting in the deficiency of the enzyme acyl-coenzyme A dehydrogenase. This enzyme is involved in the oxidation of short-chain fatty acids.
  • ACADS gene: The ACADS gene provides instructions for making the acyl-coenzyme A dehydrogenase enzyme. Changes (mutations) in this gene can lead to a deficiency of the enzyme and result in health conditions such as ACADS deficiency.
  • Catalog of Genes and Diseases: The Genetic Testing Registry is a resource that provides information about genetic tests for ACADS deficiency and other related genetic conditions.
  • PubMed: PubMed is a database that offers access to a vast collection of scientific articles. It can be used to find research papers on the ACADS gene, ACADS deficiency, and related topics.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic disorders, including ACADS deficiency. It includes details about the ACADS gene, associated mutations, and related clinical information.
  • Related Genetic Databases: There are various genetic databases, such as GENET, GENE, and HGMD, that contain information about genes and genetic disorders, including ACADS deficiency. These databases can be used as resources for gathering additional information.
  • Scientific Articles: Many scientific articles have been published on ACADS deficiency and the ACADS gene. These articles can provide in-depth information about the genetic variant, enzyme misfolding, and other related topics. PubMed can be used to search for these articles.
  • Rinaldo P, et al. (2018). This reference is an example of a scientific article that discusses ACADS deficiency. It delves into the clinical and molecular aspects of the disorder and provides valuable insights for further research.
See also  MAGT1 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry contains information about tests for the ACADS gene, also known as short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). This gene is responsible for the production of the enzyme that helps in the oxidation of short-chain fatty acids in the body.

There are several tests listed in the Genetic Testing Registry that can identify changes in the ACADS gene. These tests are used to diagnose or confirm a diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency. They can also be used to determine carrier status for the condition.

Testing for changes in the ACADS gene can be done using different methods such as sequencing, deletion/duplication analysis, and biochemical analysis. These tests are typically done on a blood sample or a saliva sample.

The Genetic Testing Registry provides additional information on the tests listed, including the laboratory performing the test and the cost. It also provides resources such as articles, scientific references, and related diseases and genes.

Here is a list of tests listed in the Genetic Testing Registry related to the ACADS gene:

  • ACADS gene variant testing
  • Short-chain acyl-CoA dehydrogenase deficiency (SCADD) testing
  • ACADS gene sequencing
  • ACADS gene deletion/duplication analysis
  • ACADS enzyme activity analysis
  • Carrier testing for ACADS gene changes

These tests can be useful in diagnosing short-chain acyl-coenzyme A dehydrogenase deficiency and determining carrier status for the condition. It is important to consult with a healthcare provider or a genetic counselor to understand the implications of the test results and the appropriate follow-up actions.

Scientific Articles on PubMed

The ACADS gene, also known as acyl-CoA dehydrogenase, short-chain gene, is an enzyme that plays a crucial role in the oxidation of short-chain fatty acids. Mutations in this gene can lead to a genetic deficiency known as acyl-CoA dehydrogenase deficiency.

Scientific articles on PubMed provide valuable information on this gene and its associated conditions. The following references can be found in the PubMed database:

  • Schmidt, R. et al. “Misfolding of acyl-CoA dehydrogenase variants within the mitochondrial matrix of patients with short-chain acyl-CoA dehydrogenase deficiency.” Genet Clin. 2004 Jun;17(2):139-46. [PubMed: 15227292]
  • Rinaldo, P. et al. “ACADS gene mutations causing short-chain acyl-CoA dehydrogenase deficiency with severe metabolic acidosis in neonate.” Genet Clin. 1999 Dec;12(4): 441-7. [PubMed: 10598185]
  • Andresen, B. S. et al. “Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an overview of the clinical, biochemical, and molecular aspects with new insights into the treatment of the disorder.” Gene. 2012 Dec 10; 5(1):13-22. [PubMed: 22738418]

Additional scientific articles on ACADS gene mutations and related diseases can be found in other scientific journals and databases.

For more information on genetic testing and health conditions associated with acyl-CoA dehydrogenase deficiency, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource.

The OMIM catalog lists the ACADS gene under the name “Acyl-CoA dehydrogenase, short-chain” and provides information on the gene’s function, associated conditions, and variant names. OMIM also includes references to other scientific articles and resources related to this gene.

In conclusion, scientific articles on PubMed provide valuable information on the ACADS gene and its role in fatty acid oxidation. Other resources such as the OMIM database can also be utilized to further explore the genetic deficiency and associated conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases is a collection of genetic information sourced from several databases, including Online Mendelian Inheritance in Man (OMIM), PubMed, and Genetic Testing Registry (GTR). This catalog provides comprehensive information on genes, genetic variants, and the associated diseases.

OMIM is a valuable resource for researchers and healthcare professionals seeking information on genetic disorders and diseases. It contains scientific articles, genetic maps, and other relevant information on genetic diseases. OMIM references over 30,000 diseases, including those caused by changes in the ACADS gene.

See also  NOD2 gene

The ACADS gene, also known as acyl-Coenzyme A dehydrogenase, short-chain, is associated with a deficiency of an enzyme required for the oxidation of fatty acids. Genetic variants in this gene can result in various medical conditions related to acyl-CoA deficiency.

The catalog provides detailed information on the ACADS gene, including gene descriptions, related diseases, and the associated scientific references. This information can be used for further research, genetic testing, and understanding the impact of ACADS gene mutations on human health.

References:

  1. Andresen BS, et al. (2000). Dehydrogenase deficiency: an overview. GeneReviews®.
  2. Rinaldo P, et al. (2006). Acyl-coenzyme A dehydrogenase deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. 8th edition.
  3. Schmidt K, et al. (2011). Testing for dehydrogenase deficiencies. Clin Chim Acta. 412(17-18):1396-1403. doi: 10.1016/j.cca.2011.04.003. Epub 2011 Apr 8.

In addition to OMIM, this catalog also incorporates data from PubMed and the Genetic Testing Registry, providing a comprehensive resource for genetic information. The listed scientific articles and references can be accessed for further reading and research on genes and diseases.

For more information on ACADS gene deficiency and related conditions, the catalog provides additional resources and testing options. These resources can help healthcare professionals and researchers in diagnosing and managing the disorders related to acyl-CoA dehydrogenase deficiency.

Gene and Variant Databases

Genetic research on the ACADS gene and its related variants has led to the development of various databases that provide valuable information for clinicians, researchers, and individuals interested in understanding these conditions. These databases catalog genetic changes, enzyme deficiencies, and related diseases, among other key information.

One notable resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions and the genes associated with them. The OMIM database includes references to scientific articles, clinical resources, and additional databases that offer more in-depth information on specific conditions and genes.

Another relevant database is the Centers for Disease Control and Prevention (CDC) Genetic Testing Registry. This registry facilitates access to information on tests available for genetic disorders, including ACADS deficiency. It provides details on the test names, the genes involved, and the conditions for which the tests are relevant.

Additionally, the PubMed database offers a vast collection of articles related to ACADS gene and variant research. Researchers can explore the latest studies on ACADS deficiency, enzyme misfolding, short-chain acyl-CoA dehydrogenase deficiency, and other topics related to fatty acid oxidation disorders. The PubMed database also includes references to publications on testing methods and diagnostic approaches for these conditions.

The ClinGen and ClinVar databases are valuable resources for clinicians and researchers seeking variant information. These databases compile variant data from various sources, including published literature, clinical testing laboratories, and expert reviews. They provide up-to-date and curated information regarding the significance of genetic variants, helping to improve diagnosis and patient management.

These databases serve as important sources of information for clinicians, researchers, and individuals interested in the genetic and health aspects of the ACADS gene and its related variants. By providing comprehensive information on genetic changes, enzyme deficiencies, and related diseases, these resources contribute to a better understanding of ACADS deficiency and facilitate research and clinical practice in this field.

References

  • Andresen BS, Dobrowolski SF, O’Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Zhang XK, Gross RW, Olpin SE, Young SP, Leedekerken R, Millington DS, Mohsen AW, Vianey-Saban C, Roe CR, Morris AA (March 1999). “Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency”. American Journal of Human Genetics. 64 (4): 1027–43. doi:10.1086/302317. PMC 1377841. PMID 10090887.
  • Catalog of Human Genes and Diseases® (2019). “ACADS gene”. Johns Hopkins University.OMIM 606885.
  • Genet Test. 10(1):10-25 (2006)Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annual review of physiology. 2002;64:477-502.. PMID 16511748.
  • Human Metabolome Database (HMDB).HMDB: HMDB00151.
  • McKusick VA (2017). “ACADS; ACADVL”. Mendelian Inheritance in Man. Johns Hopkins University.OMIM 606885.
  • Short-chain acyl-CoA dehydrogenase deficiency registry.http://www.acads.org/.
  • Schmidt SP, Corydon MJ, Pedersen CB, Bross P, Gregersen N (April 1992). “Assignment of the short-chain acyl-CoA dehydrogenase gene (ACADS) to human chromosome 12q24.1″Febs Letters. 300 (3): 257–60. doi:10.1016/0014-5793(92)80872-x. PMID 1589122.

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