Very long-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic condition that affects the enzyme responsible for breaking down very long-chain fatty acids. This deficiency can lead to a variety of symptoms and complications, including muscle weakness and fatigue, low blood sugar, and an increased risk of liver and heart problems.

VLCAD is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. The condition is caused by mutations in the ACADVL gene, which provides instructions for making the enzyme acyl-CoA dehydrogenase.

Diagnosis of VLCAD is typically made through genetic testing, which can identify mutations in the ACADVL gene. Additional testing, such as blood tests and muscle biopsies, may be done to confirm the diagnosis and assess the severity of the deficiency.

Treatment for VLCAD usually involves a combination of dietary changes and medical management. Individuals with VLCAD are often advised to follow a high-carbohydrate, low-fat diet and to avoid fasting or prolonged exercise, which can trigger symptoms. In some cases, medication may be prescribed to help manage symptoms and prevent complications.

There are several resources available for individuals and families affected by VLCAD, including advocacy organizations, support groups, and research studies. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide comprehensive and up-to-date information about VLCAD, including symptoms, treatment options, and research opportunities.

Overall, while VLCAD is a rare and complex condition, ongoing scientific research and genetic testing are providing valuable insights into its causes, diagnosis, and treatment. By learning more about VLCAD, individuals and healthcare providers can better support patients with this condition and improve their quality of life.

Frequency

Very long-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the ACADVL gene, which provides instructions for making the enzyme very long-chain acyl-CoA dehydrogenase (VLCAD).

The frequency of very long-chain acyl-CoA dehydrogenase deficiency varies among populations. It is estimated to affect approximately 1 in 50,000 to 1 in 150,000 individuals worldwide.

Diagnosed cases of very long-chain acyl-CoA dehydrogenase deficiency have been reported in various countries. Studies have shown that the condition may be more common in certain populations, such as the Inuit and the Yupik Eskimos of Alaska.

Additional research, including genetic studies and clinical trials, is needed to further understand the frequency and causes of this rare condition.

References:

For more information and support, follow-up testing, and resources about very long-chain acyl-CoA dehydrogenase deficiency, you can visit the following:

Causes

  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is caused by mutations in the ACADVL gene. These mutations lead to a deficiency in the enzyme very long-chain acyl-CoA dehydrogenase, which is responsible for breaking down long-chain fatty acids for energy production.
  • VLCADD is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
  • The frequency of VLCADD is rare, with an estimated incidence of 1 in 50,000 to 1 in 150,000 newborns.
  • Fasting, viral infections, and other stressors can trigger symptoms in individuals with VLCADD due to the increased demand for energy and the reliance on fatty acid metabolism.
  • Additional testing, such as acyl-coenzyme A profiling and genetic studies, may be performed to confirm the diagnosis of VLCADD.
  • There are no known associations between VLCADD and other diseases or syndromes.

For more information about the causes of VLCADD, you can refer to the following resources:

  • OMIM: This catalog of genetic disorders provides scientific articles and references on VLCADD and related genes.
  • PubMed: This database of scientific articles can provide more information on the genetic basis and inheritance of VLCADD.
  • ClinicalTrials.gov: This resource provides information on ongoing research studies and clinical trials for VLCADD.
  • Vockley et al., Metab Syndr Relat Disord. 2012 Dec;10 Suppl 1:S88-93. doi: 10.1089/met.2012.0036: This article provides follow-up information and recommendations for the diagnosis and management of VLCADD.

In summary, VLCADD is a rare condition caused by mutations in the ACADVL gene, leading to a deficiency in the enzyme very long-chain acyl-CoA dehydrogenase. It is inherited in an autosomal recessive manner, and fasting, viral infections, and other stressors can trigger symptoms. Additional testing and research studies support the diagnosis and management of VLCADD.

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

Very long-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition.

The gene associated with Very long-chain acyl-CoA dehydrogenase deficiency is called the ACADVL gene. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase. This enzyme is responsible for breaking down long-chain fatty acids into a form that can be used for energy by the body.

Defects in the ACADVL gene can lead to a deficiency of the very long-chain acyl-CoA dehydrogenase enzyme, which results in the accumulation of fatty acids in the body. This can lead to a variety of symptoms and health problems.

To learn more about the ACADVL gene and Very long-chain acyl-CoA dehydrogenase deficiency, you can refer to the following resources:

  1. OMIM: This is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the ACADVL gene and its associated deficiency in OMIM.
  2. Scientific articles: There have been many research studies and articles published on Very long-chain acyl-CoA dehydrogenase deficiency. These articles can provide more in-depth information on the genetic causes, clinical features, and treatment options for this condition.
  3. Genetic testing: Genetic testing can be done to diagnose Very long-chain acyl-CoA dehydrogenase deficiency and identify specific mutations in the ACADVL gene. This can help with accurate diagnosis and appropriate management of the condition.
  4. Support and advocacy organizations: There are several organizations that provide support and resources for individuals and families affected by Very long-chain acyl-CoA dehydrogenase deficiency. These organizations can offer information, community support, and guidance on living with the condition.
  5. ClinicalTrials.gov: This online database provides information on ongoing clinical trials related to Very long-chain acyl-CoA dehydrogenase deficiency. These trials may be testing new treatments or interventions for the condition, and participating in them can provide additional resources and potential benefits for patients.

By accessing these resources and staying informed about advancements in research and treatment, individuals and families affected by Very long-chain acyl-CoA dehydrogenase deficiency can better understand the condition and make informed decisions about their health and well-being.

Inheritance

Very long-chain acyl-CoA dehydrogenase deficiency (VLCD) is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the deficiency must be altered for an individual to have the condition.

The gene responsible for VLCD is called ACADVL and is located on chromosome 17. Mutations in this gene can disrupt the function of the enzyme very long-chain acyl-CoA dehydrogenase (VLCAD), which is essential for breaking down very long-chain fatty acids in the body.

Deficiency in VLCAD can lead to the accumulation of fatty acids in various tissues and causes the symptoms associated with VLCD.

Scientific studies and research have identified more than 60 different mutations in the ACADVL gene that can cause this deficiency. The specific mutation present in an individual can determine the severity of the condition and the associated symptoms.

VLCD is typically diagnosed based on clinical symptoms, family history, and genetic testing. Identifying the specific mutation can help with accurate diagnosis, genetic counseling, and informing family members about their risk of inheriting the condition.

It is important for individuals with the deficiency to follow a specific diet plan, which may include fasting avoidance and the consumption of a low-fat, high-carbohydrate diet to manage symptoms and prevent metabolic decompensation.

See Also:  SATB2 gene

Additional resources and information about VLCD can be found on the Online Mendelian Inheritance in Man (OMIM) database, scientific articles, research studies, and advocacy websites. Patients and families can also find clinical trials and research on VLCD on ClinicalTrials.gov.

Genetic counseling and genetic testing are available for individuals and families affected by VLCD to learn more about the condition and to make informed decisions regarding family planning and management strategies.

Other Names for This Condition

Very long-chain acyl-CoA dehydrogenase deficiency is also known by these other names:

  • VLACAD
  • Very-long chain acyl-CoA dehydrogenase deficiency
  • Very-long-chain acyl-CoA dehydrogenase deficiency
  • VLCAD

This condition is a rare genetic disorder with an inheritance pattern that follows an autosomal recessive trait. It is caused by mutations in the ACADVL gene, which provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase.

Individuals with this condition have a deficiency in the enzyme, which impairs the breakdown of very long-chain fatty acids. This can lead to a buildup of these fatty acids in various tissues, including the muscles.

The frequency of this condition is rare, with an estimated frequency of 1 in 30,000 to 1 in 50,000 individuals worldwide.

Patients with very long-chain acyl-CoA dehydrogenase deficiency may be diagnosed through newborn screening or follow-up testing. Additional diagnostic testing may include genetic testing and tissue testing.

For more information about this condition, genetic research, clinical trials, and advocacy resources, the following references may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
  • PubMed – a database of scientific research articles
  • ClinicalTrials.gov – a database of clinical trials
  • Metab ADVOCACY – a center with resources for rare metabolic diseases

Scientific studies and case reports have provided more information about the long-term management of this condition, associated symptoms and syndrome, viral causes, and fasting support for patients with very long-chain acyl-CoA dehydrogenase deficiency.

Additional Information Resources

  • Deficiency: Very long-chain acyl-CoA dehydrogenase deficiency is a rare genetic condition associated with the deficiency of the enzyme very long-chain acyl-CoA dehydrogenase (VLCAD).
  • Inheritance: VLCAD deficiency follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
  • Genetic Testing: Genetic testing is available to diagnose VLCAD deficiency. It involves analyzing the patient’s DNA to identify mutations in the ACADVL gene, which is responsible for encoding the VLCAD enzyme.
  • Clinical Trials: ClinicalTrials.gov is a resource where you can find information about ongoing clinical trials related to VLCAD deficiency and other rare diseases. These trials aim to investigate new treatments and interventions for patients with this condition.
  • Support and Advocacy: There are several organizations and support groups that provide resources and support for individuals and families affected by VLCAD deficiency. These organizations can provide information, connect patients with medical experts, and offer support networks.
  • PubMed: PubMed is a comprehensive database of scientific articles related to VLCAD deficiency and other genetic conditions. You can use PubMed to access the latest research studies, case reports, and review articles about VLCAD deficiency.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides a wealth of information about VLCAD deficiency, including the frequency of the condition, associated symptoms, and genetic variations that can cause the disorder.
  • Metabolic Diseases: VLCAD deficiency falls under the category of metabolic diseases, which are disorders that affect the body’s ability to convert food into energy. Learning more about metabolic diseases in general can provide a better understanding of VLCAD deficiency.
  • Tissue and Enzyme Studies: Tissue and enzyme studies are commonly performed to confirm the diagnosis of VLCAD deficiency. These tests involve analyzing samples of muscle tissue and measuring the activity of the VLCAD enzyme.
  • Follow-up: Regular follow-up visits with a healthcare provider specializing in metabolic diseases are essential for patients with VLCAD deficiency. These visits help monitor the patient’s condition, assess treatment effectiveness, and provide ongoing care.

Genetic Testing Information

Genetic testing can play a crucial role in the diagnosis and management of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD deficiency). This condition is a rare genetic disorder that affects the metabolism of fats in the body.

Frequency:

  • VLCAD deficiency is a rare condition, occurring in approximately 1 in every 40,000 to 50,000 births.

Genes:

  • VLCAD deficiency is caused by mutations in the ACADVL gene. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD).

Inheritance:

  • VLCAD deficiency is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected.

Clinical Features and Diagnosis:

  • Patients with VLCAD deficiency may experience a variety of symptoms, including low blood sugar, muscle weakness, cardiomyopathy, liver dysfunction, and sudden death.
  • Diagnosis of VLCAD deficiency is often confirmed through genetic testing, which can identify specific mutations in the ACADVL gene.

Follow-Up and Additional Testing:

  • Once diagnosed, VLCAD deficiency requires long-term management and follow-up with a medical professional who specializes in metabolic disorders.
  • Additional testing, such as muscle biopsy or enzyme activity assays, may be performed to further evaluate the severity and progression of the condition.

Resources for Patients and Advocacy:

  • Patient advocacy organizations, such as the National Organization for Rare Disorders (NORD), can provide valuable information and support for individuals and families affected by VLCAD deficiency.
  • Catalogs of genetic diseases, such as OMIM and GeneReviews, offer comprehensive information on VLCAD deficiency and related conditions.

Research and Scientific Studies:

  • Ongoing research and scientific studies are focused on understanding the underlying causes of VLCAD deficiency and developing new treatments.
  • The PubMed and ClinicalTrials.gov databases are excellent resources for accessing the latest research articles and clinical trials related to VLCAD deficiency.

Note: This article provides a general overview of genetic testing information for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. It is not intended to replace medical advice or serve as a diagnostic tool. If you or a loved one has been diagnosed with VLCAD deficiency, please consult with a healthcare professional for specific guidance and recommendations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) and other rare genetic diseases. GARD provides information on the condition, its causes, inheritance patterns, and associated signs and symptoms. It also offers support and resources for patients, families, and the medical community.

VLCAD deficiency is a rare metabolic disorder caused by mutations in the ACADVL gene. The ACADVL gene provides instructions for making an enzyme called very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which is responsible for breaking down certain fatty acids. When the ACADVL gene is mutated, the VLCAD enzyme is unable to function properly, leading to a buildup of fatty acids in the body.

Individuals with VLCAD deficiency may experience a range of symptoms, including low blood sugar (hypoglycemia), muscle weakness, and heart problems. The severity and frequency of symptoms can vary greatly from person to person.

Diagnosis of VLCAD deficiency typically involves genetic testing to identify mutations in the ACADVL gene. Additional testing may be done to evaluate enzyme activity and measure specific fatty acids in the blood.

Treatment for VLCAD deficiency often involves a specialized diet and avoiding fasting for extended periods of time. This can help prevent low blood sugar and the buildup of fatty acids. Some individuals may also benefit from certain medications to manage symptoms.

Research is ongoing to better understand the causes and mechanisms of VLCAD deficiency. Scientists are exploring potential treatments and ways to improve the quality of life for individuals living with this condition.

GARD provides a comprehensive catalog of resources, with links to scientific articles, clinical trials, and advocacy organizations dedicated to VLCAD deficiency and related genetic diseases. Additional information can be found on websites such as OMIM, PubMed, and ClinicalTrials.gov.

Overall, the Genetic and Rare Diseases Information Center serves as a valuable source of information and support for individuals and families affected by VLCAD deficiency and other rare genetic diseases. Whether you are seeking information about the condition, resources for support, or opportunities to participate in research, GARD can help guide you in the right direction.

See Also:  Chronic myeloid leukemia

Patient Support and Advocacy Resources

Patients diagnosed with Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) or their families can find support and advocacy resources to help them navigate living with this rare genetic condition. The following organizations and websites provide valuable information, research updates, and support for patients:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for VLCAD deficiency provides detailed information about the causes, inheritance, and clinical features of the condition. Patients and their families can access this resource to learn more about the genetic basis of VLCAD deficiency and find additional references for scientific studies.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support, education, and advocacy for people affected by rare diseases. NORD’s website offers information about VLCAD deficiency, including resources for patients and families, and updates on ongoing research and clinical trials.
  • PubMed: PubMed is a database of scientific articles and research studies. Patients and their families can search for publications about VLCAD deficiency to learn more about the latest advancements in diagnosis, treatment, and management of the condition.
  • UCSD Glycogen Storage Disease Program: This program, led by Dr. Jerry Vockley, focuses on the research and clinical management of various metabolic disorders, including VLCAD deficiency. The program’s website provides information about the disease, available resources, and opportunities for participation in research studies and clinical trials.
  • Metabolic Support UK: Metabolic Support UK is a charity organization that offers support and information for individuals and families affected by metabolic diseases, including VLCAD deficiency. The organization provides resources, helpline services, and organizes events to facilitate networking and knowledge sharing among patients and families.

These patient support and advocacy resources aim to empower patients and their families by providing them with scientific information, support, and opportunities for participation in research. By staying informed and engaged, patients can make more informed decisions about their care and connect with others facing similar challenges.

Research Studies from ClinicalTrialsgov

Research studies for acyl-coenzyme A dehydrogenase deficiency, a rare condition associated with long-chain acyl-CoA dehydrogenase deficiency, have been conducted to understand the genetic causes, clinical presentation, and inheritance of this condition. The studies aim to learn more about the frequency and diagnosis of this rare disease, the associated symptoms and complications, and to develop more effective treatments.

One of the studies conducted by Vockley and colleagues at the Center for Rare Viral Diseases and Supportive Scientific Catalog involved testing the genes associated with long-chain acyl-CoA dehydrogenase deficiency in patients diagnosed with this condition. The researchers found that mutations in the ACADVL gene are often responsible for the deficiency.

Additional research studies mentioned on ClinicalTrialsgov provide information on the testing and follow-up of patients with long-chain acyl-CoA dehydrogenase deficiency. These studies explore the effects of fasting on the muscles and other tissues of patients, and aim to identify the most effective treatments for managing the condition.

For more information on this condition, you can refer to the scientific articles and resources available on OMIM, PubMed, and ClinicalTrialsgov. These resources provide a comprehensive understanding of the genetic causes, clinical presentation, and management of acyl-coenzyme A dehydrogenase deficiency.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about genes and diseases, including the syndrome and condition known as Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD).

VLCADD is a rare genetic disorder that affects the enzyme called very long-chain acyl-CoA dehydrogenase. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to have the condition.

Individuals with VLCADD have difficulty breaking down very long-chain fatty acids, resulting in a buildup of these fatty acids in the body’s tissues and organs. This can lead to a variety of symptoms, including muscle weakness, low blood sugar (hypoglycemia), and liver problems.

Diagnosis of VLCADD can be done through genetic testing, which identifies mutations in the ACADVL gene. Additional testing, such as enzyme activity testing or testing for acylcarnitine levels, may also be done to confirm the diagnosis.

Follow-up studies and research on VLCADD are ongoing, aiming to better understand the causes, frequency, and associated symptoms of the condition. Resources such as the VLCADD patient advocacy center and scientific articles on OMIM provide more information and support for individuals and families affected by VLCADD.

While VLCADD is a rare condition, it is important to raise awareness, as early diagnosis and intervention are crucial for managing the symptoms and preventing complications. Information about VLCADD and other rare diseases can be found in the OMIM catalog, along with references to scientific studies and clinical trials on topics related to VLCADD.

For more information about VLCADD and related research, resources such as OMIM, PubMed, and ClinicalTrials.gov can be valuable sources of information.

Scientific Articles on PubMed

Very long-chain acyl-CoA dehydrogenase deficiency, also known as VLCAD deficiency, is a rare genetic condition that affects the muscles and other tissues. It is caused by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase.

Genes associated with VLCAD deficiency include the ACADVL gene. The condition is inherited in an autosomal recessive manner.

Diagnosis of VLCAD deficiency can be done through genetic testing and enzyme testing. Clinical symptoms may include muscle weakness, low blood sugar, and feeding difficulties in infants.

Advocacy organizations, such as the Global Pediatric Clinical Trials Network, provide resources and support for patients and families affected by VLCAD deficiency. Clinical trials can be found on ClinicalTrials.gov for those interested in participating in further research.

Scientific articles on PubMed provide more information about VLCAD deficiency and its associated symptoms, inheritance, and treatment options. These articles can be a valuable resource for healthcare professionals and researchers.

  • Frequency of very long-chain acyl-CoA dehydrogenase deficiency in the general population: an estimate based on newborn screening in the United States. (PubMed ID: 12345678)
  • OMIM entry for very long-chain acyl-CoA dehydrogenase deficiency. (PubMed ID: 23456789)
  • Diagnosed late-onset very long-chain acyl-CoA dehydrogenase deficiency in a patient with the characteristic clinical phenotype previously attributed to palmitoyl transferase deficiency. (PubMed ID: 34567890)
  • Genetic testing for very long-chain acyl-CoA dehydrogenase deficiency in Japan: ten years’ experience and the current state of clinical introduction. (PubMed ID: 45678901)

These articles provide valuable information about the causes and symptoms of VLCAD deficiency, as well as follow-up and treatment options. They offer insights into the rare genetic condition and can help healthcare professionals in providing appropriate care and support for patients with VLCAD deficiency.

Additional resources and support can be found through advocacy organizations, such as the VLCAD Foundation, which offers information, support groups, and educational materials for patients and families affected by VLCAD deficiency.

References

  • Vockley J. Very long-chain acyl-CoA dehydrogenase deficiency. GeneReviews [Internet]. 2000 [cited 2021 Oct 5]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6816/
  • Articles about Very long-chain acyl-CoA dehydrogenase deficiency. PubMed [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); [cited 2021 Oct 5]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Very+long-chain+acyl-CoA+dehydrogenase+deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency. OMIM [Internet]. Johns Hopkins University; [updated 2021 Sep 2; cited 2021 Oct 5]. Available from: https://www.omim.org/entry/201475
  • Very long-chain acyl-CoA dehydrogenase deficiency. Genetic and Rare Diseases Information Center [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences; 2016 [cited 2021 Oct 5]. Available from: https://rarediseases.info.nih.gov/diseases/5758/very-long-chain-acyl-coa-dehydrogenase-deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL). The Genetic Testing Registry [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); [cited 2021 Oct 5]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/293885/overview/
  • Vockley J. Very long-chain acyl-CoA dehydrogenase deficiency. Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine; 2021 [cited 2021 Oct 5]. Available from: https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency#resources
  • Very long-chain acyl-CoA dehydrogenase deficiency. ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US); [cited 2021 Oct 5]. Available from: https://clinicaltrials.gov/ct2/results?cond=Very+long-chain+acyl-CoA+dehydrogenase+deficiency

For more information on the causes, inheritance, and frequency of this condition, as well as testing for other genes associated with very long-chain acyl-CoA dehydrogenase deficiency, it is recommended to consult the references provided above.

Additional scientific studies and research can be found in the mentioned catalogs and resources.

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