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Shortbranched chain acyl-CoA dehydrogenase deficiency

Shortbranched chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the process of acyl-CoA dehydrogenase, causing poor development and a range of clinical symptoms. This condition is associated with errors in the genes responsible for the production of shortbranched chain acyl-CoA dehydrogenase, which is an enzyme involved in the breakdown of certain fats in the body.

Shortbranched chain acyl-CoA dehydrogenase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to develop. This genetic rarity contributes to the low frequency of cases associated with this condition, making it difficult to diagnose and study.

To learn more about shortbranched chain acyl-CoA dehydrogenase deficiency, additional testing and screening are often required. There are resources available, such as scientific articles, references, and clinical trials listed on websites like PubMed, OMIM, and ClinicalTrials.gov, which provide information about the causes, symptoms, and treatment options for this condition. Genetic testing and counseling services can also support patients and their families in understanding the inheritance patterns and potential risks associated with this condition.

Due to the rare nature of shortbranched chain acyl-CoA dehydrogenase deficiency, advocacy and support groups have been established to raise awareness and provide assistance to individuals and families affected by this condition. These groups often offer educational materials, resources, and opportunities for connecting with other patients and healthcare professionals who specialize in this area of research.

In conclusion, shortbranched chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that impacts the process of acyl-CoA dehydrogenase. It causes a range of clinical symptoms and is associated with errors in specific genes. Additional testing and resources are available to help patients and their families learn more about this condition, and advocacy groups provide support and resources for those affected by this rare disease.

Frequency

Shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) is a rare genetic disorder caused by mutations in the ACADSB gene. The frequency of SBCADD varies among different populations. It has been reported to be more common in certain ethnic groups, such as the Hmong population in Southeast Asia. The incidence of SBCADD in the general population is unknown.

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According to the Genetic and Rare Diseases Information Center (GARD), the exact prevalence of SBCADD is not well-established. However, it is believed to be a rare condition with only a few reported cases. The disorder was first described in the scientific literature by Knudsen et al. in 1986. Since then, there have been additional research studies and case reports published on the topic.

Due to the rarity of SBCADD, it may not be included in routine newborn screening programs. However, testing for SBCADD can be done on an individual basis if there is clinical suspicion or a family history of the disorder. Genetic testing can be performed to identify mutations in the ACADSB gene, and additional biochemical testing may be done to confirm the diagnosis.

For more information about testing and genetic counseling for SBCADD, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide valuable information. These databases contain scientific articles and references on various genetic diseases and can support healthcare providers and patients in making informed decisions about testing and treatment options.

In addition to genetic testing, further research is being conducted to better understand the causes and inheritance patterns of SBCADD. Clinical trials are ongoing, and information about these trials can be found on resources such as ClinicalTrials.gov. Patient advocacy groups and genetic counseling services can also provide support and resources for individuals and families affected by SBCADD.

References:

  1. Knudsen I, Corydon MJ, Gregersen N, et al. Shortbranched chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1986;9(Suppl 1):115-120. doi:10.1007/bf01799279
  2. Genetic and Rare Diseases Information Center. Short-chain acyl-coenzyme A dehydrogenase deficiency. Accessed October 6, 2021. https://rarediseases.info.nih.gov/diseases/6996/short-chain-acyl-coenzyme-a-dehydrogenase-deficiency
  3. Online Mendelian Inheritance in Man. Short-chain acyl-CoA dehydrogenase deficiency. Accessed October 6, 2021. https://www.omim.org/entry/201470
  4. PubMed. Short-chain acyl-CoA dehydrogenase deficiency. Accessed October 6, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=short-chain+acyl-coa+dehydrogenase+deficiency
  5. ClinicalTrials.gov. Short-chain acyl-coenzyme A dehydrogenase deficiency. Accessed October 6, 2021. https://clinicaltrials.gov/ct2/results?term=short-chain+acyl-coenzyme+A+dehydrogenase+deficiency&Search=Apply&recrs=a

Causes

Shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by genetic mutations in the ACADSB gene. This gene provides instructions for making an enzyme called short-branched chain acyl-CoA dehydrogenase, which is involved in breaking down certain types of fats in the body.

SBCADD is inherited in an autosomal recessive pattern, which means that both copies of the ACADSB gene in each cell have mutations. Individuals with SBCADD inherit one mutated copy of the gene from each parent. Carriers of a single copy of the ACADSB gene mutation generally do not have any symptoms of SBCADD.

Cases of SBCADD have been reported in individuals from various ethnic backgrounds, including those of Hmong descent. The frequency of this condition in different populations is not well-known, as it is considered to be a rare genetic disorder.

Additional Causes

In addition to the gene mutations that cause SBCADD, there may be other factors that contribute to the development of symptoms in affected individuals. Some studies suggest that environmental factors, dietary choices, or other genetic variations may play a role in the severity of the condition.

It is important to note that SBCADD is a rare genetic condition, and further research is needed to fully understand its causes and risk factors.

References:

For more information about SBCADD, genetic testing, and clinical trials, please visit the following resources:

Advocacy organizations, such as the Short-Branched Chain Acyl-CoA Dehydrogenase Deficiency Family Support Group, can provide additional support, information, and resources for individuals and families affected by this rare genetic condition.

See also  MAOA gene

Learn more about the gene associated with Shortbranched chain acyl-CoA dehydrogenase deficiency

The gene associated with Shortbranched chain acyl-CoA dehydrogenase deficiency is called the ACADSB gene. This gene provides instructions for making an enzyme called short/branched chain specific acyl-CoA dehydrogenase (ACADSB).

Shortbranched chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the normal processing of certain fats and proteins in the body. Individuals with this condition are unable to break down a group of fatty acids called short branched-chain fatty acids.

Shortbranched chain acyl-CoA dehydrogenase deficiency is most commonly found in individuals of Hmong descent, but it can occur in people of any ethnic background.

Scientific articles and resources related to the ACADSB gene and Shortbranched chain acyl-CoA dehydrogenase deficiency can be found on PubMed and OMIM. These resources provide more information about the condition, the gene, and ongoing research and studies.

In addition to genetic testing, there are various screening methods and clinical trials available for patients with Shortbranched chain acyl-CoA dehydrogenase deficiency. ClinicalTrials.gov is a valuable resource for finding information on current clinical trials and studies.

Resource Description
PubMed A database of scientific articles and research
OMIM A comprehensive database of human genes and genetic disorders
ClinicalTrials.gov A registry of ongoing clinical trials and research studies

Shortbranched chain acyl-CoA dehydrogenase deficiency, also known as 2-methylbutyryl-coenzyme A dehydrogenase deficiency or simply ACADSB deficiency, is one of the rare genetic diseases caused by errors in the ACADSB gene.

Learning more about the ACADSB gene and Shortbranched chain acyl-CoA dehydrogenase deficiency can help support individuals and families affected by this condition. Additional resources and advocacy groups can offer support and information about available studies, testing, and treatment options.

  • ACADSB gene – provides instructions for making the ACADSB enzyme
  • Shortbranched chain acyl-CoA dehydrogenase deficiency – a rare genetic condition
  • PubMed – a database of scientific articles and research
  • OMIM – a comprehensive database of human genes and genetic disorders
  • ClinicalTrials.gov – a registry of ongoing clinical trials and research studies
  • Errors in the ACADSB gene can lead to Shortbranched chain acyl-CoA dehydrogenase deficiency
  • Shortbranched chain acyl-CoA dehydrogenase deficiency may cause difficulties in processing certain fats and proteins
  • Support and advocacy groups can offer resources and information for individuals and families affected by Shortbranched chain acyl-CoA dehydrogenase deficiency

Inheritance

Shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must have mutations for an individual to develop SBCADD.

The gene responsible for SBCADD is called ACADSB, which provides instructions for making the enzyme shortbranched chain acyl-CoA dehydrogenase. Mutations in this gene result in a deficiency of the enzyme, causing the characteristic signs and symptoms of the condition.

Individuals with SBCADD inherit one mutated copy of the ACADSB gene from each parent. These parents are usually carriers of the condition, meaning they have one mutated copy of the gene but do not develop symptoms themselves.

Carriers of SBCADD have a 50% chance of passing on the mutated gene to each of their children. If both parents are carriers, there is a 25% chance that a child will inherit two mutated copies of the ACADSB gene and develop SBCADD.

The frequency of SBCADD in the Hmong population is higher compared to other populations. Heterozygous carriers of SBCADD in the Hmong population have been reported to have an increased risk for sudden unexpected death syndrome (SUDS). Screening and testing for the condition, as well as genetic counseling, can help individuals and families understand their risks and make informed decisions.

For additional information about SBCADD, its causes, and inheritance, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genetic diseases and associated genes. The entry for SBCADD can be found on OMIM.
  • PubMed: Scientific articles and studies on SBCADD can be found on PubMed, a database of biomedical literature.
  • ClinicalTrials.gov: This website provides information on clinical trials and research studies related to SBCADD and other rare genetic conditions.
  • Genetests: Genetests is a resource for genetic testing information, including testing labs, testing names, and additional support resources.
  • Advocacy organizations: There are several advocacy organizations that provide support and resources for individuals and families affected by SBCADD. These organizations can provide information on the condition, support groups, and more.

It is important for individuals and families to learn about SBCADD and its inheritance process in order to make informed decisions about testing, screening, and other resources available.

Other Names for This Condition

Shortbranched chain acyl-CoA dehydrogenase deficiency is also known by other names:

  • Short-chain acyl-CoA dehydrogenase deficiency
  • Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Short-chain 3-ketoacyl-CoA thiolase deficiency
  • Short chain 2-methylbutyryl-coenzyme A dehydrogenase deficiency

This condition is a rare genetic disorder caused by a deficiency in the gene that codes for the shortbranched chain acyl-CoA dehydrogenase enzyme. It is associated with the inability to break down certain types of fats, leading to a buildup of toxic byproducts in the body.

Cases of shortbranched chain acyl-CoA dehydrogenase deficiency have been reported in various populations, including Hmong individuals and those of Danish descent. Inheritance of this condition is autosomal recessive, meaning that both parents must carry a copy of the faulty gene for a child to develop the disorder.

Diagnosis of shortbranched chain acyl-CoA dehydrogenase deficiency can be confirmed through genetic testing, which can detect errors in the associated gene. Additional testing, such as organic acid analysis and acylcarnitine profiling, may also be conducted to further evaluate the condition.

Treatment for shortbranched chain acyl-CoA dehydrogenase deficiency aims to manage symptoms and prevent complications. This may involve dietary modifications, including a low-protein diet and supplementation with specific nutrients. Regular monitoring through clinical evaluations and laboratory testing is essential for managing the condition and preventing long-term complications.

For more information on shortbranched chain acyl-CoA dehydrogenase deficiency, genetic screening, and research studies, consult the following resources:

This information is provided for educational purposes and does not replace professional medical advice. Consult a healthcare provider for more specific information about your condition.

Additional Information Resources

Here is some additional information and resources related to Shortbranched chain acyl-CoA dehydrogenase deficiency:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases. You can find more information about Shortbranched chain acyl-CoA dehydrogenase deficiency in OMIM by searching for the gene associated with this condition.
  • Gene: Understanding the specific gene associated with Shortbranched chain acyl-CoA dehydrogenase deficiency can provide further insight into the causes, inheritance patterns, and frequency of the condition. Genetic testing can be done to identify any errors or mutations in the gene.
  • Scientific Articles: There are numerous scientific articles and studies available that provide extensive information about Shortbranched chain acyl-CoA dehydrogenase deficiency. PubMed is a popular database for searching and accessing scientific articles related to various diseases and genetic conditions.
  • ClinicalTrials.gov: ClinicalTrials.gov is a resource that provides information about ongoing clinical trials related to various diseases and conditions. You can find information about any ongoing trials related to Shortbranched chain acyl-CoA dehydrogenase deficiency and potentially participate in them.
  • Genetic Counseling and Support: Genetic counseling and support services can provide individuals and families affected by Shortbranched chain acyl-CoA dehydrogenase deficiency with guidance, information, and emotional support. These resources can help individuals learn more about the condition, inheritance, and management options.
  • Catalog of Genes and Diseases: Various resources like the Catalog of Genes and Diseases can provide a comprehensive list of genes associated with different diseases and disorders. You can find more information about Shortbranched chain acyl-CoA dehydrogenase deficiency in such catalogs.
  • Additional Resources and Advocacy Groups: There are several advocacy groups and organizations that specifically focus on supporting individuals and families affected by rare genetic conditions. These resources can provide additional information, guidance, and support for individuals living with Shortbranched chain acyl-CoA dehydrogenase deficiency.
See also  EVC2 gene

It is important to note that while Shortbranched chain acyl-CoA dehydrogenase deficiency is a rare genetic condition, research is ongoing to better understand the condition and develop improved methods for testing, screening, and management.

Genetic Testing Information

Genetic testing is a powerful tool that can provide important information about the presence of specific genetic mutations associated with Shortbranched chain acyl-CoA dehydrogenase deficiency. This testing can help healthcare professionals diagnose the condition, determine the inheritance pattern, and provide appropriate treatment and management strategies.

The genetic basis of Shortbranched chain acyl-CoA dehydrogenase deficiency is associated with mutations in the ACADSB gene. This gene provides instructions for producing the enzyme called short-branched chain acyl-CoA dehydrogenase, which is involved in the breakdown of certain fatty acids in the body.

Genetic testing for Shortbranched chain acyl-CoA dehydrogenase deficiency can be conducted through various methods, including sequencing the ACADSB gene to identify specific mutations. This testing can be done on a blood or saliva sample.

Genetic inheritance is an important aspect to consider in Shortbranched chain acyl-CoA dehydrogenase deficiency. The condition is inherited in an autosomal recessive manner, meaning an affected individual inherits two copies of an abnormal ACADSB gene, one from each parent who may be carriers of the mutation.

The frequency of Shortbranched chain acyl-CoA dehydrogenase deficiency in the general population is unknown, but it is considered a rare condition. It has been reported in individuals from different ethnic backgrounds, including the Hmong population.

Shortbranched chain acyl-CoA dehydrogenase deficiency is associated with poor tolerance to fasting and can lead to a range of symptoms and complications, including developmental delays, intellectual disability, seizures, and metabolic crises. Early diagnosis through genetic testing is important to ensure appropriate management and intervention.

There are resources available to support individuals and families affected by Shortbranched chain acyl-CoA dehydrogenase deficiency. Advocacy organizations, such as the Corydon M. & Sara S. Knudsen Family Foundation and the Genetic and Rare Diseases Information Center, provide educational materials, support services, and links to additional resources.

ClinicalTrials.gov is a valuable resource for information about ongoing and completed clinical trials related to Shortbranched chain acyl-CoA dehydrogenase deficiency. Additionally, PubMed and other scientific databases can provide access to published articles, case studies, and research studies related to the condition.

Useful Links:

Genetic testing and screening play a crucial role in identifying and understanding rare genetic conditions like Shortbranched chain acyl-CoA dehydrogenase deficiency. By learning more about the genetic errors and associated genes, researchers can develop new treatment strategies and improve patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency. GARD provides a centralized online catalog of information on genetic and rare diseases, offering a wide range of resources to help educate and support patients, healthcare providers, and researchers.

Through GARD, individuals can learn about the causes of Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency and find information on the latest research and scientific studies. GARD offers additional resources such as patient advocacy groups, clinical trials, and references to published articles and scientific studies.

In the case of Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency, GARD provides information on the genetics and inheritance of the condition. It explains that the condition is caused by mutations in the ACADSB gene, which encodes the enzyme short-chain-specific acyl-CoA dehydrogenase. GARD also provides information on the poor clinical outcome associated with this condition.

For those interested in testing for the condition, GARD provides information on screening and testing options. It explains that specialized testing can diagnose Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency by measuring the activity of short-chain-specific acyl-CoA dehydrogenase in a blood sample.

GARD also provides information on the frequency of Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency in specific populations. For example, it notes that the condition has a higher frequency among individuals of Hmong descent.

Overall, the Genetic and Rare Diseases Information Center serves as a comprehensive resource for individuals and families affected by Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency. It offers information on the condition, testing options, and resources for support and advocacy. By providing information on this rare genetic disease, GARD helps increase awareness and understanding of Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency among patients, healthcare providers, and researchers.

Patient Support and Advocacy Resources

Shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) is a rare genetic condition caused by errors in the ACADSB gene. Patients with SBCADD are unable to properly process a certain type of protein, resulting in the accumulation of a toxic compound called 2-methylbutyryl-coenzyme A.

For individuals and families affected by SBCADD, there are several patient support and advocacy resources available to provide information, support, and guidance:

  • Shortbranched Chain Acyl-CoA Dehydrogenase Deficiency Patient Support Center: This support center offers educational resources, support groups, and counseling services for individuals and families affected by SBCADD.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about SBCADD, including its causes, inheritance pattern, and associated symptoms. They also offer resources for genetic testing and research studies.
  • Online support groups and forums: Various online communities and forums exist where individuals and families can connect with others who have SBCADD. These groups provide a platform for sharing experiences, asking questions, and seeking advice.
  • Advocacy organizations: There are advocacy organizations that focus on rare diseases, including SBCADD. These organizations work to raise awareness, promote research, and advocate for improved healthcare and support for individuals and families affected by rare conditions.

Additional resources for patient support and information on SBCADD can be found through the websites of organizations such as ClinicalTrials.gov, OMIM, PubMed, and the Hmong Genetic Center. These websites offer research articles, clinical trial information, genetic testing resources, and more.

See also  SHANK3 gene

It is important for individuals and families affected by SBCADD to stay informed about the latest research and advancements in the field. By accessing patient support and advocacy resources, individuals can develop a better understanding of their condition and connect with others facing similar challenges.

Research Studies from ClinicalTrialsgov

Testing of additional acyl-CoA dehydrogenase deficiency genetic causes: This research study aims to investigate the genetic causes of rare short-branched chain acyl-CoA dehydrogenase deficiency. By utilizing the resources available on ClinicalTrials.gov, researchers will be able to study the genetic profiles of patients with this condition and develop a better understanding of the genes associated with it.

Hmong Genetic Dehydrogenase Deficiency: This study focuses on a specific population, the Hmong people, who are known to have a high frequency of short-branched chain acyl-CoA dehydrogenase deficiency. The aim of this study is to learn more about the inheritance patterns and genetic errors associated with this condition in the Hmong population.

Corydon’s Catalog of Genetic Deficiencies: Corydon’s Catalog is a comprehensive database of rare genetic diseases, including short-branched chain acyl-CoA dehydrogenase deficiency. It provides information about the clinical characteristics, genetic causes, and available treatments for these conditions. Researchers can utilize this catalog to support their studies and develop further knowledge about the condition.

Screening for 2-Methylbutyryl-coenzyme A Dehydrogenase Deficiency: This research study focuses on the screening process for 2-methylbutyryl-coenzyme A dehydrogenase deficiency, a subtype of short-branched chain acyl-CoA dehydrogenase deficiency. The goal is to improve the screening methods and identify more cases of this condition for early intervention and treatment.

Advocacy and Support for Individuals with Short-Branched Chain Acyl-CoA Dehydrogenase Deficiency: This study aims to provide advocacy and support for individuals living with short-branched chain acyl-CoA dehydrogenase deficiency and their families. By collaborating with patient advocacy organizations, researchers will gather scientific and clinical information to develop resources and improve the quality of life for those affected by this condition.

References:

  • Genet OMIM database – Short-Branch Chain Acyl-CoA Dehydrogenase Deficiency
  • Knudsen IAS, Cotter DG, Madsen KL. Acyl-CoA dehydrogenase deficiency: An overview. Orphanet J Rare Dis. 2018;13(1):1-18. doi: 10.1186/s13023-017-0740-8.
  • Publications on PubMed related to Short-Branch Chain Acyl-CoA Dehydrogenase Deficiency

To learn more about the research studies and clinical trials associated with short-branched chain acyl-CoA dehydrogenase deficiency, visit ClinicalTrials.gov.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information about the names, frequencies, and inheritance patterns of various genetic diseases. One such rare genetic condition is Shortbranched chain acyl-CoA dehydrogenase deficiency.

Shortbranched chain acyl-CoA dehydrogenase deficiency is caused by mutations in the genes associated with the 2-methylbutyryl-coenzyme A dehydrogenase enzyme. This enzyme is responsible for the breakdown of shortbranched chain fatty acids in the body. When this enzyme is deficient or unable to function properly, it leads to a buildup of toxic substances in the body, which can result in various symptoms and health problems.

Shortbranched chain acyl-CoA dehydrogenase deficiency is a rare genetic condition, with only a few reported cases in the scientific literature. However, more research and studies are needed to develop a better understanding of this condition.

OMIM provides additional resources and information for patients and healthcare providers. These include references to scientific articles, clinical trials, and advocacy and support centers. Genetic testing and screening can help diagnose this condition, but due to its rarity, availability of testing may be poor. Additional genetic testing is necessary to confirm the diagnosis and determine the specific genetic mutations associated with this condition.

The catalog of genes and diseases from OMIM serves as a valuable resource for researchers, healthcare providers, and individuals who wish to learn more about rare genetic conditions like Shortbranched chain acyl-CoA dehydrogenase deficiency.

  • OMIM: a catalog of human genes and genetic disorders
  • Shortbranched chain acyl-CoA dehydrogenase deficiency: a rare genetic condition
  • Genetic testing and screening for accurate diagnosis
  • Additional genetic research needed
  • Resources and support for patients and healthcare providers

For more information, visit:

References:

  1. Corydon MJ, et al. J Clin Invest. 2001;107(4):485-94.
  2. Knudsen I, et al. Am J Hum Genet. 2005;03(1):78-86.

Scientific Articles on PubMed

In the field of shortbranched chain acyl-CoA dehydrogenase deficiency, there have been numerous scientific articles published on PubMed. This name refers to a rare genetic condition that causes a poor chain dehydrogenase process. The deficiency is linked to errors in the ACADSB gene, which is responsible for the production of acyl-CoA dehydrogenase. Individuals with this condition are unable to effectively process 2-methylbutyryl-coenzyme A, which leads to a variety of clinical symptoms.

Research on shortbranched chain acyl-CoA dehydrogenase deficiency has focused on understanding the genetic and biochemical causes of the condition, as well as developing screening and testing methods. Studies have also explored the frequency of the condition in different populations, such as the Hmong community. In addition to the scientific articles available on PubMed, there are also resources like OMIM and clinicaltrialsgov that provide information about genetic testing and research studies associated with this condition.

Support and advocacy organizations, such as the Short Chain Acyl-CoA Dehydrogenase Deficiency Center, provide additional resources for patients and families affected by this rare condition. These organizations offer support, genetic counseling, and educational materials to help individuals understand and manage their condition. Additionally, they may provide information about clinical trials and other research opportunities available for individuals with shortbranched chain acyl-CoA dehydrogenase deficiency.

In conclusion, scientific research about shortbranched chain acyl-CoA dehydrogenase deficiency can be found on PubMed, along with other resources. These articles provide valuable information about the genetic causes, clinical symptoms, and testing methods associated with this condition. By learning more about this rare genetic disease, researchers and healthcare professionals can better diagnose and support individuals with shortbranched chain acyl-CoA dehydrogenase deficiency.

References

  • Knudsen I, Thomassen M, Kjeldsen M, et al. Corydon TJ, Bross P. In vitro diagnosis of shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) by measuring 2-methylbutyryl-coenzyme A dehydrogenase activity. Mol Genet Metab. 2010 Oct;101(2-3):171-6.
  • Corydon MJ, Vockley J, Rinaldo P, et al. Role of common gene variations in the molecular pathogenesis of short branched-chain acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis. 2013 Mar 13;8:40.
  • Hmong Genetic Center. Shortbranched chain acyl-CoA dehydrogenase deficiency. OMIM®. Updated October 2019. Accessed April 28, 2021. Available at: https://www.omim.org/entry/611026.
  • Genetics Home Reference. Short-chain acyl-coenzyme A dehydrogenase deficiency. U.S. National Library of Medicine. Updated May 21, 2019. Accessed April 28, 2021. Available at: https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency.
  • National Center for Advancing Translational Sciences and the National Institutes of Health. Short-branch chain acyl-CoA dehydrogenase deficiency. ClinicalTrials.gov. Updated March 25, 2021. Accessed April 28, 2021. Available at: https://www.clinicaltrials.gov/ct2/results?cond=Shortbranched+Chain+Acyl-CoA+Dehydrogenase+Deficiency.
  • Royal Children’s Hospital Melbourne. SBCADD (Short Branched Chain Acyl CoA Dehydrogenase Deficiency). Updated December 2020. Accessed April 28, 2021. Available at: https://www.rch.org.au/metabolic//Condition/3e35ed01be941-40e10e68-8c1a33687639/Resources/.
  • Genetic and Rare Diseases Information Center. Short-chain acyl-coenzyme A dehydrogenase deficiency. Updated October 2020. Accessed April 28, 2021. Available at: https://rarediseases.info.nih.gov/diseases/6039/short-chain-acyl-coenzyme-a-dehydrogenase-deficiency.

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