3-hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease associated with a deficiency of the enzyme 3-hydroxyacyl-coa dehydrogenase. This enzyme is involved in the breakdown of fatty acids in the body. Without sufficient levels of this enzyme, the body is unable to properly metabolize fatty acids, leading to a buildup of certain acids in the blood.

The condition is typically 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 develop the disease. The gene responsible for 3-hydroxyacyl-CoA dehydrogenase deficiency is called HADH, and mutations in this gene are responsible for causing the condition.

Signs and symptoms of 3-hydroxyacyl-CoA dehydrogenase deficiency can vary widely from patient to patient. Some individuals may experience symptoms such as hypoglycemia, muscle weakness, lethargy, and low blood sugar. Others may be asymptomatic or have only mild symptoms. In severe cases, the condition can lead to serious complications, including organ failure and even death.

Diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency is typically done through genetic testing to identify mutations in the HADH gene. Additional testing, such as blood tests and urine tests, may also be conducted to measure levels of certain acids in the body. A diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency can be confirmed with these tests. Treatment for the condition may involve dietary changes, such as avoiding fasting and consuming a low-fat, high-carbohydrate diet. In severe cases, medical intervention may be needed to manage symptoms and prevent complications.

Currently, there is no cure for 3-hydroxyacyl-CoA dehydrogenase deficiency. However, ongoing research and scientific studies are helping to better understand the disease and develop potential treatments. Organizations such as OMIM and clinicaltrialsgov provide resources and information about the condition, supporting advocacy and research efforts. For additional information about 3-hydroxyacyl-CoA dehydrogenase deficiency, including more on its causes, inheritance patterns, and associated signs and symptoms, individuals can refer to scientific articles, references, and resources available from these organizations.

Frequency

This condition is rare, with a frequency estimated to be around 1 in every 20,000 to 50,000 births. It is caused by mutations in the gene encoding the 3-hydroxyacyl-CoA dehydrogenase enzyme, which is involved in the breakdown of fatty acids.

Without this enzyme, affected individuals experience a buildup of certain fatty acids in their blood, leading to the characteristic signs and symptoms of the disease.

The frequency of this deficiency may vary in different populations and geographic regions. Testing for this condition is typically done when there is a suspicion based on the patient’s symptoms and clinical presentation.

Research studies and clinical trials are ongoing to learn more about the frequency and causes of this disease. Additional scientific references from PubMed, OMIM, and other sources can provide more information on the genetics and inheritance of this condition.

The National Center for Advancing Translational Sciences (NCATS) has a catalog of resources about this condition and other rare diseases. The ClinicalTrials.gov website also provides information on ongoing clinical trials related to this deficiency.

Additional Resources
Resource Description
ClinicalTrials.gov Provides information on ongoing clinical trials related to this deficiency.
PubMed A database of scientific articles and research studies.
OMIM A comprehensive catalog of genetic diseases and associated genes.
National Center for Advancing Translational Sciences (NCATS) Offers resources and support for patients and advocacy groups.

Learn more about 3-hydroxyacyl-CoA dehydrogenase deficiency and find support from patient advocacy groups and other resources.

Causes

The primary cause of 3-hydroxyacyl-CoA dehydrogenase deficiency is genetic mutations in the enzyme HADH gene. These mutations typically result in a deficiency of the enzyme, which is essential for the breakdown of certain fatty acids in the body.

In most cases, this deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to cause the condition. However, there have been rare cases where individuals develop the deficiency without any known genetic mutations.

Scientific studies have identified a number of different mutations in the HADH gene that are associated with the deficiency. These mutations can result in a wide range of signs and symptoms, and the severity of the condition can vary greatly from patient to patient.

References to genetic studies and clinical trials related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on websites such as ClinicalTrials.gov, OMIM, and PubMed. These resources provide additional information on the genetics of the condition, as well as potential treatment options.

Genetic testing can be used to confirm a diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency. This testing can identify specific mutations in the HADH gene that are associated with the condition. However, it is important to note that not all individuals with the deficiency will have detectable mutations in this gene.

In addition to the HADH gene, other genes have been implicated in rare cases of 3-hydroxyacyl-CoA dehydrogenase deficiency. These genes are involved in the metabolism of fatty acids and can impact the function of the HADH enzyme.

  • Genetic mutations in these other genes may result in a deficiency of the enzyme, similar to mutations in the HADH gene.
  • Further research and studies are needed to better understand the role of these genes in the development of 3-hydroxyacyl-CoA dehydrogenase deficiency.

It is important for individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency and their families to seek support and advocacy resources. Organizations such as the Rare Disease Center and the Advocacy and Support Organization provide information, support, and resources for individuals affected by rare genetic conditions like this.

As there is currently no cure for 3-hydroxyacyl-CoA dehydrogenase deficiency, treatment focuses on managing symptoms and preventing complications. This may include dietary modifications, avoiding triggers, and monitoring blood levels of certain acids and enzymes. In severe cases, medical interventions may be necessary to manage symptoms and prevent life-threatening complications.

Learn more about the gene associated with 3-hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease caused by mutations in the gene HADHA. This gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase, which is involved in breaking down fats for energy. Without a functional HADHA gene, the enzyme cannot perform its role effectively, resulting in the accumulation of certain fatty acids and harmful byproducts in the body.

Research studies have identified various mutations in the HADHA gene associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. These mutations can lead to a wide range of signs and symptoms, including feeding difficulties, lethargy, low blood sugar, muscle weakness, and, in severe cases, life-threatening complications such as cardiac arrest.

Genetic testing is available to diagnose 3-hydroxyacyl-CoA dehydrogenase deficiency, and it can help confirm the presence of mutations in the HADHA gene. This information can be useful for determining the inheritance pattern of the condition, providing genetic counseling for affected individuals and their families, and guiding treatment decisions.

In addition to genetic testing, further laboratory and clinical studies are being conducted to better understand the causes and mechanisms of 3-hydroxyacyl-CoA dehydrogenase deficiency. These studies aim to improve the diagnosis and management of the disease and explore potential treatment options.

There are several resources available for patients and families affected by 3-hydroxyacyl-CoA dehydrogenase deficiency. Organizations such as OMIM and the Genetic and Rare Diseases Information Center provide comprehensive information on the condition, including its frequency, inheritance patterns, and available support resources.

Scientific articles and references on 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on PubMed, a database of biomedical literature. ClinicalTrials.gov lists ongoing clinical trials related to the disease, which may offer additional information and potential treatment options for patients.

References:

Inheritance

3-hydroxyacyl-CoA dehydrogenase deficiency is inherited in an autosomal recessive manner.

This means that both copies of the gene responsible for this condition must have mutations in order for an individual to be affected. If a person has one mutated copy and one normal copy of the gene, they are considered a carrier of the condition and typically do not have any symptoms. Carriers can pass the mutated gene on to their children.

See Also:  BAP1 gene

The disease is rare and typically affects infants and young children. It is characterized by the inability to break down certain fats in the body, which can cause serious health complications, including death if left untreated.

If you or someone you know has been diagnosed with 3-hydroxyacyl-CoA dehydrogenase deficiency, it is important to seek medical and genetic counseling support. Genetic testing can help determine if you are a carrier of the condition and if there is a risk of passing it on to future children.

There is currently no cure for 3-hydroxyacyl-CoA dehydrogenase deficiency, but there are treatments available to manage the symptoms and prevent complications. These may include dietary modifications, medications, and regular monitoring of blood markers.

Research studies and clinical trials are ongoing to learn more about the genetic basis of this disease and to develop new therapies. Additional information about ongoing research studies and clinical trials can be found on websites such as clinicaltrialsgov.

For more scientific information about 3-hydroxyacyl-CoA dehydrogenase deficiency, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles and references related to the disease, its genetic causes, inheritance frequency, and associated clinical signs.

References:

  1. “3-hydroxyacyl-CoA dehydrogenase deficiency.” Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health.
  2. “3-hydroxyacyl-CoA dehydrogenase deficiency.” OMIM – Online Mendelian Inheritance in Man. Johns Hopkins University.
  3. “3-hydroxyacyl-CoA dehydrogenase deficiency.” PubMed. U.S. National Library of Medicine, National Institutes of Health.

Other Names for This Condition

3-hydroxyacyl-CoA dehydrogenase deficiency is also known by several other names:

  • – HADH deficiency
  • – 3-HAD deficiency
  • – GA2 deficiency (referring to glutaric aciduria type 2, which is a closely related disorder)
  • – Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
  • – LCHAD deficiency

These names are used interchangeably to describe the same condition.

In scientific and medical publications, this condition is often referred to as “3-hydroxyacyl-CoA dehydrogenase deficiency” or simply “HADH deficiency”.

Information about this condition can be found in various resources, including online catalogs, research articles, and genetic testing centers. Some resources specific to this condition include:

  • – OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with this condition and their inheritance patterns.
  • – PubMed: PubMed is a database of scientific articles. It contains research studies, clinical trials, and case reports on 3-hydroxyacyl-CoA dehydrogenase deficiency and related diseases.
  • – ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. It lists ongoing and completed studies on this condition, which can provide valuable information about new treatments and interventions.

In addition to these resources, there are also advocacy and support organizations that provide information and resources for patients and families affected by 3-hydroxyacyl-CoA dehydrogenase deficiency. These organizations can offer support, connect individuals with medical experts, and provide resources for managing the disease.

Overall, 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease with unique characteristics. To learn more about this condition, its causes, signs and symptoms, genetic inheritance, and available resources, further research and consultation with healthcare professionals is recommended.

Additional Information Resources

Here is a list of additional resources that provide more information and support for individuals and families affected by 3-hydroxyacyl-CoA dehydrogenase deficiency:

  • Enzyme Replacement Therapy: Learn about other enzyme deficiencies and their treatment options here
  • Patient Support Groups: Connect with other individuals and families affected by rare genetic diseases through patient support groups like the National Organization for Rare Disorders (NORD)
  • Scientific Studies: Stay up to date with the latest research and scientific studies on 3-hydroxyacyl-CoA dehydrogenase deficiency through PubMed
  • Genetic Testing and Inheritance: Learn more about the genetic causes and inheritance patterns associated with this condition on the Online Mendelian Inheritance in Man (OMIM)
  • Clinical Trials: Find information on ongoing clinical trials for 3-hydroxyacyl-CoA dehydrogenase deficiency on ClinicalTrials.gov
  • Contact the Experts: Reach out to specialized centers and advocacy organizations such as the National Organization for Rare Disorders (NORD) for further assistance and guidance

These resources provide valuable information to help understand and manage 3-hydroxyacyl-CoA dehydrogenase deficiency, as well as offer support and connections within the rare genetic disease community.

Genetic Testing Information

Genetic testing, especially for rare conditions, can provide valuable information for patients and their families. In the case of 3-hydroxyacyl-CoA dehydrogenase deficiency, genetic testing can help identify the specific gene mutations that cause the condition.

Genetic testing is typically done using a blood sample from the patient. This sample is then analyzed in a laboratory to identify any mutations in the genes associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. The results of these tests can provide important insights into the genetic causes of the condition.

There are several resources available for individuals seeking information about genetic testing for 3-hydroxyacyl-CoA dehydrogenase deficiency. The National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) catalog provides information about the genetic basis of this and other diseases. PubMed is another database that contains scientific articles and research studies related to genetic testing and 3-hydroxyacyl-CoA dehydrogenase deficiency.

In addition to these resources, the clinicaltrialsgov website may also be a valuable source of information. This website provides information on ongoing clinical trials and research studies related to the condition. By searching for “3-hydroxyacyl-CoA dehydrogenase deficiency” on clinicaltrialsgov, patients and their families can learn about any current studies that may be relevant to their condition.

Genetic testing can provide important information about the inheritance patterns of 3-hydroxyacyl-CoA dehydrogenase deficiency. This information can be useful for family planning and understanding the likelihood of passing the condition on to future generations.

It is important to note that genetic testing is just one tool in the diagnosis and management of 3-hydroxyacyl-CoA dehydrogenase deficiency. Other clinical signs and symptoms, as well as additional laboratory tests, may also be necessary for a complete diagnosis.

Patients and their families should consult with a healthcare professional or genetic counselor for more information about genetic testing and its implications for 3-hydroxyacyl-CoA dehydrogenase deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that offers information on rare genetic diseases. GARD provides reliable information on genetic and rare diseases, including 3-hydroxyacyl-CoA dehydrogenase deficiency.

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to break down certain types of fats. It is typically 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.

Signs and symptoms of 3-hydroxyacyl-CoA dehydrogenase deficiency can vary widely, and may include developmental delay, low blood sugar, muscle weakness, and an enlarged liver. More severe cases of the condition can result in life-threatening complications, including cardiac abnormalities and sudden death.

Diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency is typically based on clinical symptoms, biochemical testing, and genetic testing. Treatment options for the condition are currently limited, and primarily focus on managing symptoms and preventing complications. Genetic counseling and support from advocacy groups can also be beneficial for individuals and families affected by this rare disease.

Scientific research and studies have identified several genes associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. These genes encode the 3-hydroxyacyl-CoA dehydrogenase enzyme, which is necessary for the breakdown of fats. Mutations in these genes can result in a deficiency of the enzyme and the associated symptoms of the condition.

Additional information about 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on the OMIM and Genetic and Rare Diseases Information Center websites. These websites provide comprehensive and up-to-date information on the condition, including articles, references, and resources for further learning.

See Also:  Aarskog-Scott syndrome

Resources:

Note: The information provided here is for educational purposes only and should not be considered as a substitute for medical advice. Individuals and families affected by 3-hydroxyacyl-CoA dehydrogenase deficiency should consult with their healthcare provider for professional guidance and support.

Patient Support and Advocacy Resources

For patients and families dealing with the rare genetic disease 3-hydroxyacyl-CoA dehydrogenase deficiency, it is important to seek support from various resources. Here are some organizations and platforms that can provide valuable information and assistance:

  • Genetic and Rare Diseases Information Center (GARD): GARD offers a comprehensive database of information about rare diseases, including 3-hydroxyacyl-CoA dehydrogenase deficiency. Patients and their families can learn about the signs, symptoms, causes, inheritance patterns, and available testing options for this condition.
  • Online support groups: Joining online support groups can connect patients and their families with others who are also affected by 3-hydroxyacyl-CoA dehydrogenase deficiency. These groups provide a platform to share experiences, exchange information, and offer emotional support.
  • Scientific research articles and publications: Stay up to date with the latest scientific advancements and research studies on 3-hydroxyacyl-CoA dehydrogenase deficiency. PubMed and OMIM are valuable resources for accessing scientific literature related to this condition.
  • Patient advocacy organizations: Various patient advocacy organizations focus on genetic disorders and can provide resources and support for individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency. These organizations often have dedicated helplines, educational materials, and can connect patients with clinical trials and research opportunities.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials, including those related to 3-hydroxyacyl-CoA dehydrogenase deficiency. Patients and their families can search for ongoing or upcoming clinical trials that may offer potential treatments, interventions, or additional support.
  • Genetic testing centers: Genetic testing centers can provide information about available tests for 3-hydroxyacyl-CoA dehydrogenase deficiency and help individuals determine if they should undergo testing. They can also provide genetic counseling services to explain the implications and results of genetic tests.

These resources can help patients and their families access information, support, and the latest research on 3-hydroxyacyl-CoA dehydrogenase deficiency. It is important to stay informed and connected to a supportive community when dealing with this rare genetic disease.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the disease 3-hydroxyacyl-CoA dehydrogenase deficiency and its associated clinical signs and symptoms. ClinicalTrials.gov is a valuable resource for researchers and patients alike, offering information on current research studies, genetic testing, and advocacy and support resources.

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease caused by mutations in the HADH gene. This gene encodes an enzyme involved in the breakdown of fatty acids for energy production. Without a functional HADH gene, the body is unable to properly metabolize fatty acids, leading to a buildup of 3-hydroxyacyl-CoA compounds in the blood.

ClinicalTrials.gov provides a catalog of research studies aimed at better understanding the causes, frequency, and clinical manifestations of 3-hydroxyacyl-CoA dehydrogenase deficiency. These studies often involve genetic testing to identify mutations in the HADH gene and other related genes and may provide valuable information about the inheritance pattern and prognosis of the disease.

In addition to information about 3-hydroxyacyl-CoA dehydrogenase deficiency, ClinicalTrials.gov offers a wealth of information about other rare genetic diseases. Users can search for studies on specific conditions or browse articles and resources for more information on genetic testing and research.

For patients and families affected by 3-hydroxyacyl-CoA dehydrogenase deficiency, ClinicalTrials.gov can be a valuable source of support and advocacy resources. The website provides information on patient advocacy groups, clinical centers specializing in the disease, and additional research articles and resources.

To learn more about 3-hydroxyacyl-CoA dehydrogenase deficiency and find resources and support, visit ClinicalTrials.gov.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for learning about rare genetic diseases and the genes associated with them. The catalog provides information on the causes, inheritance patterns, clinical signs, and frequency of these diseases.

OMIM is a comprehensive database that contains detailed information on over 10,000 genetic conditions and their associated genes. It is regularly updated with new research findings and supports scientific research and clinical trials.

For the specific condition of 3-hydroxyacyl-CoA dehydrogenase deficiency, OMIM provides additional information on the gene associated with the disease. This enzyme deficiency can lead to serious health problems, including death. OMIM provides a wealth of information for patients, healthcare professionals, and researchers.

The catalog also includes references to scientific articles, clinical trials, patient advocacy resources, and other supporting information. These resources can help individuals learn more about the disease and find additional support.

Genetic testing is typically recommended for individuals with suspected 3-hydroxyacyl-CoA dehydrogenase deficiency to confirm the diagnosis. Genetic testing can also help determine the inheritance pattern and provide information on the likelihood of passing the disease to future generations.

OMIM is a valuable tool for researchers, clinicians, and patients seeking information on rare genetic diseases like 3-hydroxyacyl-CoA dehydrogenase deficiency. With its comprehensive and up-to-date information, OMIM is a trusted resource for learning about the genetic basis of these conditions.

For more information about 3-hydroxyacyl-CoA dehydrogenase deficiency or other rare genetic diseases, visit the OMIM website or consult with a healthcare professional.

Scientific Articles on PubMed

3-hydroxyacyl-CoA dehydrogenase deficiency, also known as 3-HAD, is a rare genetic condition that affects the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme is involved in the breakdown of certain types of fats in the body.

Without this enzyme, acids can build up in the blood, leading to potentially life-threatening complications. The condition typically causes signs and symptoms in infancy or early childhood, although the severity can vary greatly among affected individuals.

Research on 3-hydroxyacyl-CoA dehydrogenase deficiency is ongoing, with scientists investigating the underlying causes and associated genes of the condition. Clinical trials are also being conducted to test new treatments and therapies.

PubMed, a comprehensive resource for scientific articles, provides a wealth of information about 3-hydroxyacyl-CoA dehydrogenase deficiency. Here are some articles you can find on PubMed:

  • Genetic and clinical characteristics of a Chinese patient with 3-hydroxyacyl-CoA dehydrogenase deficiency – This article discusses the case of a Chinese patient with 3-HAD deficiency, providing insights into the genetic and clinical characteristics of the condition.
  • Frequency of 3-hydroxyacyl-CoA dehydrogenase deficiency in a pediatric population – This study explores the frequency of 3-HAD deficiency in a pediatric population, shedding light on the rarity of the condition.
  • Advocacy and support resources for patients with 3-hydroxyacyl-CoA dehydrogenase deficiency – This article highlights advocacy and support resources available for patients and families affected by 3-HAD deficiency, offering additional information about the condition and available resources.

In addition to these articles, PubMed provides a vast catalog of scientific research on 3-hydroxyacyl-CoA dehydrogenase deficiency. This includes studies on the inheritance patterns, clinical presentations, diagnostic testing, and more.

For more information about 3-hydroxyacyl-CoA dehydrogenase deficiency, you can also refer to resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov. These resources provide comprehensive information about the condition, ongoing research, and available clinical trials.

References

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