Short-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition associated with a failure of the enzyme short-chain acyl-coenzyme A dehydrogenase (SCAD) to work properly. This deficiency is caused by mutations in the ACADS gene, which provides instructions for making the SCAD enzyme.

This condition can cause signs and symptoms that can vary widely from patient to patient, including mild to severe effects on the body. Some individuals with short-chain acyl-CoA dehydrogenase deficiency may not have any signs or symptoms, while others may experience episodes of metabolic crisis with metabolic acidosis, a drop in blood sugar levels, muscle weakness, and other symptoms.

Diagnosis of short-chain acyl-CoA dehydrogenase deficiency can be confirmed through genetic testing. This testing involves analyzing the ACADS gene for mutations that cause the deficiency. Additional testing may be necessary to determine the exact genetic cause of the condition, as mutations in other genes have also been associated with short-chain acyl-CoA dehydrogenase deficiency.

There are resources available for genetic testing and genetic counseling for individuals with short-chain acyl-CoA dehydrogenase deficiency and their families. These resources include genetic testing centers, support and advocacy organizations, and clinical articles and information about the condition. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database are also valuable sources of information and references for scientific articles on short-chain acyl-CoA dehydrogenase deficiency.

Screening for short-chain acyl-CoA dehydrogenase deficiency is not part of routine newborn screening tests, but some states include it in their screening panels. It is important to consult with healthcare professionals to determine if further testing is necessary for individuals with a family history of the condition or for those who exhibit signs and symptoms associated with short-chain acyl-CoA dehydrogenase deficiency.

Frequency

The frequency of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is estimated to be about 1 in 50,000 to 1 in 100,000 newborns. This makes it a relatively rare condition.

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SCADD is inherited in an autosomal recessive manner. This means that both copies of the ACADS gene, which provides instructions for making the short-chain acyl-CoA dehydrogenase enzyme, must have mutations in order for the deficiency to occur.

Symptoms of SCADD can range from mild to severe, and may include developmental delays, low muscle tone, and feeding difficulties.

Diagnosis of SCADD can be made through genetic testing, which can detect mutations in the ACADS gene. Additional testing, such as screening for acyl-coenzyme A dehydrogenase deficiencies or measuring acylcarnitine levels, may also be done to confirm the diagnosis.

There are various resources available for patients and families affected by SCADD. These may include advocacy and support groups, as well as informational articles and scientific references on the condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information on the genetic basis and clinical features of SCADD.

As SCADD is a rare genetic condition, it is important for healthcare providers to stay informed about the latest research and advancements in diagnosis and treatment options. Genetic counseling may also be beneficial for individuals and families seeking more information about the inheritance pattern and recurrence risks associated with SCADD.

In conclusion, Short-chain acyl-CoA dehydrogenase deficiency is a rare condition with a frequency of about 1 in 50,000 to 1 in 100,000 newborns. Diagnosis can be made through genetic testing and additional screening. There are resources and support available for individuals and families affected by SCADD.

Causes

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a genetic condition that is caused by mutations in the ACADS gene. Mutations in this gene result in a deficiency of the enzyme short-chain acyl-CoA dehydrogenase, which is responsible for breaking down short-chain fatty acids in the body.

SCADD is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. Individuals who have only one copy of the mutated gene are known as carriers and typically do not show any signs or symptoms of the condition.

Most cases of SCADD are detected through newborn screening programs, which test for a variety of genetic conditions shortly after birth. Without newborn screening, SCADD can be difficult to diagnose, as the signs and symptoms can vary widely between individuals and can be similar to other conditions.

It is estimated that SCADD has a frequency of approximately 1 in 50,000 to 1 in 100,000 births. However, the true frequency of the condition may be higher, as many individuals with SCADD do not show any symptoms and therefore go undiagnosed.

There are no known cures for SCADD, but there are resources available for individuals and families affected by the condition. Genetic counseling can provide information on inheritance patterns and the likelihood of passing the condition on to future generations. Advocacy groups and patient support organizations can also provide additional information and support to individuals with SCADD and their families.

For more information on SCADD and related genetic conditions, visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on the genes, genetic conditions, and associated symptoms.
  • PubMed: PubMed is a database of scientific articles that can provide more in-depth information on SCADD and related research.
  • GeneTests: GeneTests is an online catalog of genetic testing laboratories and additional resources for genetic conditions.

Genetic testing can be done to confirm a diagnosis of SCADD and to identify specific mutations in the ACADS gene. This testing can be helpful in providing a definitive diagnosis and in identifying other individuals in the family who may be at risk for the condition.

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

Short-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to break down certain fats. This condition is caused by mutations in the ACADS gene, which provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is involved in the breakdown of short-chain fatty acids, which are an important source of energy for the body.

See also  TGM3 gene

Short-chain acyl-CoA dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means that both copies of the ACADS gene in each cell have mutations. Individuals with this condition are typically asymptomatic, but some may experience signs and symptoms such as hypoglycemia, lethargy, and failure to thrive.

The frequency of Short-chain acyl-CoA dehydrogenase deficiency varies among different populations. It is estimated to occur in approximately 1 in 40,000 to 1 in 100,000 individuals in the general population. The condition is more common in individuals of Northern European descent.

Genetic testing can be done to confirm a diagnosis of Short-chain acyl-CoA dehydrogenase deficiency. This testing detects mutations in the ACADS gene, which can help guide treatment and management decisions. There is currently no cure for this condition, but treatment involves managing symptoms and preventing complications through dietary modifications and regular monitoring.

If you or your child has been diagnosed with Short-chain acyl-CoA dehydrogenase deficiency, it is important to seek support and resources. There are advocacy organizations and patient support groups that can provide additional information and connect you with other individuals and families affected by this condition. These organizations can also provide resources for genetic counseling and testing.

For more information on Short-chain acyl-CoA dehydrogenase deficiency and other rare genetic diseases, you can refer to scientific articles and references from reputable sources such as PubMed. There is a wealth of information available on this condition, including clinical guidelines, research studies, and patient resources.

Additional Resources

Inheritance

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive condition. This means that a child must inherit two copies of the defective gene, one from each parent, in order to develop the disease. Individuals who have only one copy of the gene are called carriers and typically do not show signs or symptoms of the condition.

SCADD is caused by mutations in the ACADS gene. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase (SCAD). This enzyme is responsible for breaking down a group of fats called short-chain fatty acids. When there is a deficiency of this enzyme, short-chain fatty acids can build up in the body, leading to various signs and symptoms of the condition.

  • Approximately 1 in 40,000 to 1 in 80,000 individuals worldwide are affected by SCADD.
  • The condition is more common in certain populations, such as individuals of Amish or Mennonite descent, where the frequency can be as high as 1 in 375 individuals.
  • SCADD is detected through genetic testing, which can identify mutations in the ACADS gene.

SCADD is associated with a wide range of signs and symptoms, which can vary greatly from patient to patient. Some individuals may have mild forms of the condition and never experience any symptoms, while others may develop severe symptoms and complications. Common signs and symptoms of SCADD include:

  • Failure to thrive (poor growth and weight gain) in infants
  • Vomiting, diarrhea, and dehydration
  • Hypoglycemia (low blood sugar)
  • Muscle weakness and fatigue
  • Developmental delays or intellectual disability

SCADD is often detected through newborn screening programs, which can identify the condition shortly after birth. Early detection allows for prompt treatment and management of the condition, which can help prevent complications and improve outcomes for affected individuals.

For additional information about SCADD, including detailed scientific articles, patient support resources, and advocacy organizations, the following references and resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic conditions: https://omim.org/entry/201470
  • PubMed – a searchable database of scientific articles: https://pubmed.ncbi.nlm.nih.gov
  • Genetic testing resources and laboratories – consult a healthcare professional or genetic counselor for more information on available testing options
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) Registry – a central repository of information on SCADD and related conditions, including support groups and clinical trials: https://scaddregistry.com

It is important to note that SCADD is a relatively rare genetic condition, and not all healthcare professionals may be familiar with it. Therefore, it is important for patients and their families to seek out reliable sources of information and support to learn more about the condition and available resources.

Other Names for This Condition

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

  • Short-chain acyl-Coenzyme A dehydrogenase deficiency
  • Short-chain acyl-CoA dehydrogenase (SCAD) genetic deficiency
  • Short-chain acyl-CoA dehydrogenase deficiency through genetic advocacy
  • SCAD genetic deficiency
  • SCAD deficiency
  • Short-chain dehydrogenase deficiency
  • SCAD deficiency – gene review
  • SCAD deficiency – OMIM (Online Mendelian Inheritance in Man)
  • Short-chain acyl-CoA dehydrogenase deficiency – ClinicalGenetics.org

These alternative names are used to provide more information or to describe the condition from different perspectives. They can be helpful in learning about the condition and finding additional resources and support.

For more scientific information, articles, and patient resources on short-chain acyl-CoA dehydrogenase deficiency and related diseases, the following references can be consulted:

  • Corydon MJ, Corydon TJ, Rinaldo P, et al. Role of acyl-CoA dehydrogenases in normal and disease states. Mol Genet Metab. 2004;83(1-2):117-123. doi:10.1016/j.ymgme.2004.08.003
  • SCAD deficiency – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency#resources. Accessed May 20, 2022.
  • Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency. Ministry of Health – Bahrain. Available at: https://www1.moh.gov.bh/Media/Default/HealthInfo/Documents/Short%20Chain%20Acyl-CoA%20Dehydrogenase%20Deficiency%20(SCADD).pdf. Accessed May 20, 2022.

Further research, genetic testing, and screening can help in detecting other genes associated with this condition, as well as understanding the frequency and inheritance patterns. Genetic counseling and support from advocacy groups can also provide valuable information and resources for individuals and families affected by short-chain acyl-CoA dehydrogenase deficiency.

Additional Information Resources

For additional information on Short-chain acyl-CoA dehydrogenase deficiency, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic diseases, including Short-chain acyl-CoA dehydrogenase deficiency. You can access detailed clinical and genetic information, as well as references to scientific articles on this condition. OMIM is available for free at: https://www.omim.org/.
  • Genetic Testing Registry – The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests for various diseases, including Short-chain acyl-CoA dehydrogenase deficiency. You can learn more about the genes and genetic testing options available for this condition. GTR can be accessed at: https://www.ncbi.nlm.nih.gov/gtr/.
  • National Center for Advancing Translational Sciences (NCATS) – NCATS offers resources for patients and advocates, including information on different genetic diseases. You can find general information on Short-chain acyl-CoA dehydrogenase deficiency, its signs and symptoms, and associated genetic inheritance patterns. Visit NCATS at: https://rarediseases.info.nih.gov/.
  • PubMed – PubMed is a database of scientific articles that provides access to the latest research on various diseases, including Short-chain acyl-CoA dehydrogenase deficiency. You can find more articles on the clinical aspects, causes, and other related topics. PubMed is available at: https://pubmed.ncbi.nlm.nih.gov/.
  • Genetics Home Reference – Genetics Home Reference is a resource that provides consumer-friendly information on genetic conditions. You can learn more about Short-chain acyl-CoA dehydrogenase deficiency and its genetic causes, inheritance patterns, and available testing options. Visit Genetics Home Reference at: https://ghr.nlm.nih.gov/.
See also  GATM gene

Genetic Testing Information

Short-chain acyl-CoA dehydrogenase deficiency, also known as acyl-CoA dehydrogenase deficiency, is a rare genetic condition associated with the failure to break down certain fats into energy. It is caused by mutations in the ACADS gene, which provides instructions for producing the enzyme short-chain acyl-coenzyme A dehydrogenase (SCAD). Without this enzyme, the body is unable to properly metabolize short-chain fatty acids.

This genetic condition can be detected through genetic testing. Genetic testing involves analyzing a person’s DNA to look for changes or mutations in specific genes associated with the condition. This information can help patients and their families learn more about the causes, inheritance pattern, and signs of the deficiency.

Genetic testing for short-chain acyl-CoA dehydrogenase deficiency can be done through various resources, including clinical genetic testing laboratories, genetic counseling centers, and research studies. The frequency of this condition in the general population is rare, making it important to consult specialized resources for accurate and up-to-date information.

Genetic Testing Resources:

Patient Advocacy and Support:

By using these resources, patients and their families can gather more information about short-chain acyl-CoA dehydrogenase deficiency and find support from advocacy groups and other individuals affected by the syndrome.

Additional References:

Corydon, M.J., et al. Acyl-CoA dehydrogenase, short-chain-specific Genet Med. 2019 Apr;21(4):866-877.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource provided by the National Institutes of Health (NIH) that offers information about rare genetic disorders. GARD provides clinical and scientific information about various rare diseases, including Short-chain acyl-CoA dehydrogenase deficiency, also known as SCAD deficiency.

SCAD deficiency is a rare genetic condition caused by mutations in the ACADS gene, which codes for the enzyme short-chain acyl-CoA dehydrogenase. This enzyme is responsible for breaking down certain fatty acids for energy production. People with SCAD deficiency have a deficiency or dysfunction of this enzyme, leading to the accumulation of certain fatty acids and metabolic disturbances.

SCAD deficiency is typically inherited in an autosomal recessive manner. This means that an affected individual inherits two copies of the mutated ACADS gene, one from each parent. However, in some cases, SCAD deficiency may be caused by a de novo mutation, meaning that the mutation is not inherited and occurs in the affected individual for the first time.

The signs and symptoms of SCAD deficiency vary widely among affected individuals. Some individuals may have no apparent symptoms, while others may develop metabolic crises, failure to thrive, developmental delays, or other complications. SCAD deficiency may also be associated with an increased risk of other health conditions, such as cardiomyopathy and sudden infant death syndrome (SIDS).

Diagnosis of SCAD deficiency can be made through genetic testing, which can detect mutations in the ACADS gene. Additionally, biochemical testing can be done to measure the activity of the short-chain acyl-CoA dehydrogenase enzyme. Screening for SCAD deficiency can be done in newborns as part of routine genetic screening programs.

Although there is no cure for SCAD deficiency, management and treatment options are available to help individuals manage the condition. This may include dietary interventions, such as avoiding certain fatty acids, and close monitoring of metabolic function. Individuals with SCAD deficiency may also benefit from regular follow-up with a healthcare team experienced in managing this condition.

For more information about SCAD deficiency and other rare genetic diseases, GARD provides additional resources, such as links to PubMed articles and other scientific publications. GARD also offers information about patient advocacy groups, where individuals and families can learn more about the condition and connect with others who are affected.

References:

  1. GeneReviews. Short-Chain Acyl-CoA Dehydrogenase Deficiency. Updated 2018 Jan 25. Available from: https://www.ncbi.nlm.nih.gov/books/NBK63517/
  2. National Organization for Rare Disorders. Short-Chain Acyl-CoA Dehydrogenase Deficiency. Available from: https://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency/
  3. Genetics Home Reference. Short-chain acyl-CoA dehydrogenase deficiency. Available from: https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency

Patient Support and Advocacy Resources

Short-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the enzyme acyl-coenzyme A dehydrogenase. It is associated with a failure to break down short-chain fatty acids, leading to a buildup of harmful substances in the body. The condition is caused by mutations in the gene ACADS, which is responsible for producing the enzyme.

For patients with short-chain acyl-CoA dehydrogenase deficiency and their families, finding support and resources can be crucial. These resources can provide information about the condition, connect patients with others facing similar challenges, and offer guidance on managing the condition and advocating for their needs.

Patient Support

There are several organizations and online communities dedicated to providing support for patients and families affected by short-chain acyl-CoA dehydrogenase deficiency. These resources include:

  • The Corydon Syndrome Patient Advocacy Center: This organization offers support and resources for individuals and families affected by the Corydon Syndrome, which includes short-chain acyl-CoA dehydrogenase deficiency.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides a wealth of information on rare genetic conditions, including short-chain acyl-CoA dehydrogenase deficiency. They offer resources for patients, families, and healthcare providers, including a list of support groups.
  • Genetic Support Foundation: This organization provides support and resources for individuals and families dealing with genetic conditions. They offer educational materials, counseling services, and connections to community resources.
See also  DGUOK gene

Screening and Testing

Early detection and diagnosis of short-chain acyl-CoA dehydrogenase deficiency is crucial for managing the condition effectively. Screening and testing can help identify individuals with the condition and provide them with appropriate treatment and support. The following resources offer information and support related to screening and testing:

  • Free Genetic Testing Programs: Some organizations offer free or low-cost genetic testing programs, including testing for conditions such as short-chain acyl-CoA dehydrogenase deficiency. These programs can help individuals determine if they have the condition and access appropriate care.
  • Clinical Trials: Clinical trials are research studies that test new treatments or interventions for medical conditions. Participating in a clinical trial may provide individuals with access to advanced testing and potential treatments for short-chain acyl-CoA dehydrogenase deficiency.

Additional Resources

For more information on short-chain acyl-CoA dehydrogenase deficiency, related genes, and associated diseases, the following resources can be helpful:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on short-chain acyl-CoA dehydrogenase deficiency, including genetic information, associated symptoms, and scientific articles.
  • PubMed: PubMed is a database that provides access to a vast collection of medical literature. Searching for “short-chain acyl-CoA dehydrogenase deficiency” on PubMed can yield research articles and studies on the condition.

By utilizing these patient support and advocacy resources, individuals and families affected by short-chain acyl-CoA dehydrogenase deficiency can access the information, support, and resources they need to navigate this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information for patients, healthcare professionals, and researchers. It offers a wide range of resources on various genetic conditions, including Short-chain acyl-CoA dehydrogenase deficiency.

Short-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition caused by mutations in the gene coding for the short-chain acyl-CoA dehydrogenase enzyme. This enzyme is responsible for breaking down short-chain fatty acids in the body.

Patients with this condition often present with signs such as failure to thrive, developmental delays, and metabolic crises. The frequency of this deficiency is estimated to be approximately 1 in 37,000 individuals.

OMIM provides more information on the clinical features, genetic inheritance, and associated genes for Short-chain acyl-CoA dehydrogenase deficiency. Additionally, it offers references to scientific articles and other resources for further learning.

Through OMIM, patients and their families can access free genetic testing and genetic counseling services. They can also find advocacy and support groups that offer assistance and information on managing this condition.

OMIM’s catalog includes information on other genetic diseases and syndromes as well. It serves as a valuable tool for researchers, clinicians, and anyone interested in genetic conditions and their underlying causes.

To learn more about Short-chain acyl-CoA dehydrogenase deficiency and other rare genetic diseases, visit OMIM and explore their extensive catalog of genes and diseases:

References:

  1. Andresen BS, Bross P, Udvari S, et al. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet. 1997;6(5):695-707. doi:10.1093/hmg/6.5.695
  2. Spiekerkoetter U, Lindner M, Santer R, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009;32(4):498-505. doi:10.1007/s10545-009-1091-7
  3. Corydon MJ, Gregersen N, Lehnert W, et al. Variant short-chain Acyl-CoA dehydrogenase gene associated with mild nonclassical acyl-CoA dehydrogenase deficiency. Molecular genetics and clinical presentation. J Clin Invest. 1991;88(1):45-50. doi:10.1172/JCI115260

Scientific Articles on PubMed

  • Gene screening for short-chain acyl-CoA dehydrogenase deficiency: This rare genetic condition is detected through gene screening. The frequency of this deficiency is very low, with only a few reported cases.
  • Other genes and inheritance: Short-chain acyl-CoA dehydrogenase deficiency is one of many genetic diseases that can cause failure of the ACAD9 gene. It is important to consider other rare genetic conditions when screening for this deficiency.
  • Support and resources: For more information about this condition, there are scientific articles available on PubMed. These articles provide valuable information about the genetic causes, clinical signs, and testing methods for short-chain acyl-CoA dehydrogenase deficiency.
  • Association with other rare genetic diseases: Short-chain acyl-CoA dehydrogenase deficiency may be associated with other rare genetic diseases. It is important to consider these associations when diagnosing and treating patients with this condition.
  • OMIM and patient advocacy: The Online Mendelian Inheritance in Man (OMIM) catalog provides further information about short-chain acyl-CoA dehydrogenase deficiency. Patient advocacy groups may also offer support and resources for individuals affected by this condition.
  • More information and learning center: To learn more about short-chain acyl-CoA dehydrogenase deficiency and associated genetic diseases, visit the learning center on PubMed. This resource provides free access to scientific articles and references on this topic.
  • Scientific articles: PubMed provides access to scientific articles related to short-chain acyl-CoA dehydrogenase deficiency. These articles cover various aspects of the condition, including its genetic causes, clinical manifestations, and management strategies.

References

  • PubMed:

    Information about short-chain acyl-CoA dehydrogenase deficiency and other related genetic conditions can be found on PubMed. PubMed provides access to a large collection of scientific articles and references for further research.

  • OMIM:

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can learn more about short-chain acyl-CoA dehydrogenase deficiency and its associated genes on the OMIM website.

  • National Center for Advancing Translational Sciences:

    The National Center for Advancing Translational Sciences (NCATS) provides resources and support for research on rare genetic diseases. Visit their website to find additional information on short-chain acyl-CoA dehydrogenase deficiency and related conditions.

  • Free and open-access articles:

    There are various free and open-access articles available online that provide more information on the causes, signs, and clinical features of short-chain acyl-CoA dehydrogenase deficiency. Some of these articles can be accessed through PubMed or other scientific databases.

  • Genetic Testing and Screening:

    Genetic testing and screening can be used to detect short-chain acyl-CoA dehydrogenase deficiency and other genetic conditions. Talk to a genetic counselor or healthcare provider for more information about testing options and availability.

  • Support and Advocacy:

    Support and advocacy groups can provide valuable resources and information for patients and families affected by short-chain acyl-CoA dehydrogenase deficiency. These groups can help connect individuals with others who have similar experiences and provide emotional support.