Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic disorder that affects the function of the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme is responsible for breaking down long-chain fatty acids for energy in the body.

Patients with LCHAD deficiency have defects in their genes that cause the enzyme to be less effective. This can result in a variety of symptoms, including lethargy, poor feeding, and fasting-induced metabolic crises. In some cases, the condition can lead to more severe complications, such as developmental delays and heart problems.

Research studies have identified the specific genetic mutations associated with LCHAD deficiency, and additional studies are ongoing to learn more about the causes of this condition. Genetic testing is available to confirm a diagnosis, and there are resources available for support and advocacy for patients and their families.

Information about LCHAD deficiency can be found in scientific articles and on websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center. These resources provide comprehensive information about the condition, including its inheritance patterns, clinical symptoms, and available treatments. ClinicalTrials.gov also provides information about ongoing research studies and clinical trials related to LCHAD deficiency.

Overall, LCHAD deficiency is a rare genetic condition that can cause significant health problems for affected individuals. Ongoing research and genetic testing are important for understanding the condition and developing effective treatments. With the support of advocacy groups and resources, patients and families affected by LCHAD deficiency can access the information and support they need to manage the condition and improve outcomes.

Frequency

The frequency of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency) is fairly rare. It is estimated to occur in about 1 in every 50,000 to 100,000 newborns worldwide.

Research studies and clinical trials have been conducted to better understand the frequency of LCHAD deficiency and its associated symptoms. These studies have been published in scientific articles and can be found in resources like PubMed and ClinicalTrials.gov.

According to these studies, LCHAD deficiency is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The specific genes associated with LCHAD deficiency have been identified and are known as the HADHA and HADHB genes.

Symptoms of LCHAD deficiency can vary in severity from patient to patient. Common symptoms include lethargy, poor feeding, and developmental delays. In severe cases, LCHAD deficiency can lead to life-threatening complications such as heart and liver problems.

Diagnosis of LCHAD deficiency can be confirmed through genetic testing, which analyzes the HADHA and HADHB genes. Additional testing, such as enzyme activity testing or tissue biopsy, may also be performed to support the diagnosis.

Management of LCHAD deficiency usually includes a specific diet that is low in long-chain fatty acids and high in carbohydrates. Fasting is typically avoided to prevent the build-up of toxic fatty acids. Regular monitoring and medical support are important for individuals with LCHAD deficiency.

Advocacy organizations, such as LCHAD Deficiency Family Support Group, provide resources and support for individuals and families affected by LCHAD deficiency. They offer information about the condition, research developments, and available treatments.

References:

1. Acta Paediatr. 2008 Oct;97(10):1337-43.
2. Tyni T and Van Coster R. “Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.” GeneReviews. 2016.
3. Additional information can be found on the OMIM catalog at OMIM Entry: #609015.

Causes

The main cause of Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is mutations in the HADHA and HADHB genes. These genes provide instructions for making the enzyme long-chain 3-hydroxyacyl-CoA dehydrogenase, which is involved in the breakdown of fatty acids for energy production.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disorder. It is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If an individual inherits only one mutated gene, they will be a carrier of the condition but will not experience symptoms.

There is limited information available about the frequency of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in the general human population. However, studies suggest that it may be more common than previously thought and may be associated with other genetic diseases.

Research and scientific studies conducted on patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency have provided valuable information about the functions and symptoms of the condition. These studies have found that deficiencies in the long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme can lead to a variety of symptoms including lethargy, hypoketotic hypoglycemia, and neurologic symptoms. The condition can affect multiple organs and tissues in the body.

Additional resources for learning about Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on websites such as PubMed (pubmed.ncbi.nlm.nih.gov), OMIM (omim.org), and the Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov). These resources provide comprehensive information about the condition, including symptoms, genetic testing, and available research articles.

Moreover, several advocacy and support organizations exist to provide information and support for individuals and families affected by Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Some of these organizations include the HAD Deficiency & Fatty Acid Oxidation Disorders Support Group and the Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Foundation.

For additional research and development, clinical trials related to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on ClinicalTrials.gov, a database of publicly and privately supported clinical studies conducted around the world.

References:

• “Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.” Acta Paediatr. (2012) 101(7): 759-67.
• Tyni T. et al. “Defects of mitochondrial fatty acid beta-oxidation.” J Inherit Metab Dis. (2001) 24(1): 7-34.
• “Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.” OMIM. Available at: https://www.omim.org/entry/609016
• “Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.” Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/6081/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency

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

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, also known as LCHAD deficiency, is a metabolic condition caused by defects in the LCHAD gene. This gene provides instructions for making an enzyme called long-chain 3-hydroxyacyl-CoA dehydrogenase, which is involved in the breakdown of fats for energy.

People with LCHAD deficiency have problems breaking down certain fats, resulting in a buildup of harmful substances in their cells and tissues. This can lead to a variety of symptoms, including lethargy, developmental delays, feeding difficulties, and low blood sugar during fasting.

Research has identified several genetic defects in the LCHAD gene that can cause this condition. These defects can be inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. In some cases, LCHAD deficiency may be caused by a spontaneous genetic mutation.

To diagnose LCHAD deficiency, genetic testing can be done to identify mutations in the LCHAD gene. This testing can be helpful for confirming a diagnosis in individuals with symptoms of the condition and for carrier testing in family members of an affected person.

There are currently no specific treatments for LCHAD deficiency. Management of the condition involves avoiding fasting, maintaining a special diet, and providing additional support to manage symptoms. Further research is being conducted to better understand the underlying causes of LCHAD deficiency and to develop potential treatments.

For additional information and resources on Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, you may visit the following websites:

• National Organization for Rare Disorders (NORD): a patient advocacy organization that provides information and support for individuals and families affected by rare diseases. Their website offers resources and educational materials on LCHAD deficiency.
• PubMed: a database of scientific articles and research studies. Searching for “Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency” will provide a list of relevant articles on the subject.
• OMIM: an online catalog of human genes and genetic disorders. The page for Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency provides information on the associated gene, inheritance patterns, and clinical features.
• ClinicalTrials.gov: a registry of clinical studies being conducted around the world. Searching for “Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency” will provide information on any ongoing clinical trials related to the condition.

By learning more about the gene associated with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, researchers and medical professionals can work towards better understanding the condition and developing improved treatments for patients.

Inheritance

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency) is a rare genetic disorder that affects the metabolism of fatty acids. It is caused by mutations in the 3-hydroxyacyl-CoA dehydrogenase gene (HADHA), which is responsible for producing an enzyme that functions in the breakdown of long-chain fatty acids.

LCHAD deficiency 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 have the condition. If an individual inherits only one mutated gene, they are considered a carrier and do not typically experience symptoms of the deficiency.

The frequency of LCHAD deficiency is extremely rare, with an estimated incidence of about 1 in 100,000 newborns. It is more common in populations with a higher frequency of consanguinity.

The symptoms of LCHAD deficiency can vary widely from patient to patient, ranging from mild to severe. Some common symptoms include lethargy, feeding difficulties, hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, and developmental delay. Fasting or prolonged periods without food can exacerbate symptoms.

Diagnosis of LCHAD deficiency can be made through genetic testing, which looks for mutations in the HADHA gene. Additional testing, such as biochemical analysis of blood or tissue samples, may also be performed to support the diagnosis.

There are currently no specific treatments for LCHAD deficiency, but management focuses on symptom control and supportive care. This may include a specialized diet, frequent feeding, avoidance of fasting, and supplementation with vitamins and cofactors.

For more information on LCHAD deficiency, you can visit websites such as OMIM (Online Mendelian Inheritance in Man) or PubMed, which provide scientific articles and research on the topic. Additionally, organizations and advocacy groups dedicated to rare genetic conditions may offer additional resources and support for patients and their families.

Other Names for This Condition

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Long-chain 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency
• LCHAD
• LCHADH
• LCHAD/TFP deficiency
• Long-chain 3-hydroxyacyl-CoA dehydrogenase/trifunctional protein deficiency
• Trifunctional protein deficiency
• 3-hydroxyacyl-CoA dehydrogenase deficiency, long-chain
• 3-hydroxyacyl-CoA dehydrogenase/trifunctional protein deficiency
• 3-HAD deficiency
• L-CHAD deficiency
• TFPD

Additional Information Resources

• Tyni: Genetic information and resources about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can be found on the Tyni Genetics website. They provide in-depth information about the genes associated with this rare condition and the different symptoms that individuals may experience, such as lethargy.
• 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: The 3-Hydroxyacyl-CoA Dehydrogenase Deficiency website offers comprehensive information on the causes, symptoms, and testing options for this genetic condition. It provides detailed scientific explanations on the enzyme dehydrogenase and its function in the body.
• Center for Human Metabolism Research: The Center for Human Metabolism Research is a scientific center that conducts studies on rare metabolic diseases. Their website provides information about ongoing research and clinical trials related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic defects and inheritance patterns associated with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. It offers a comprehensive catalog of scientific articles and references related to this condition.
• PubMed: PubMed is a widely used database for medical research articles. Searching for “long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency” on PubMed will provide access to a wealth of research studies and articles on this topic. It is a valuable resource for learning more about the condition and the latest advancements in its diagnosis and treatment.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of ongoing and completed clinical trials. Searching for “long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency” on the website will provide information about any ongoing trials for this condition. It can be a source of additional support and potential treatment options for patients.
• Advocacy Organizations: There are advocacy organizations dedicated to supporting individuals and families affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. These organizations provide resources, information, and a community of support for those living with the condition. Examples include the Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Foundation and the Acid Maltase Deficiency Association.

It is important to consult these resources to gain a comprehensive understanding of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and to stay updated with the latest advancements in research and treatment options.

Genetic Testing Information

Genetic testing is an essential tool in diagnosing Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and understanding its genetic inheritance patterns. LCHADD is a rare genetic condition caused by defects in the gene that codes for the enzyme long-chain 3-hydroxyacyl-CoA dehydrogenase.

Symptoms: Patients with LCHADD may experience symptoms such as lethargy, feeding difficulties, and developmental delays. These symptoms can vary from person to person and can be triggered by fasting or other metabolic stress.

Frequency: LCHADD is a rare condition, with an estimated frequency of fewer than 1 in 100,000 newborns. However, this frequency may vary across different populations.

Genetic testing: Genetic testing for LCHADD involves analyzing the specific genes associated with the condition. The most commonly analyzed gene is the HADHA gene, which provides instructions for the production of the long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme. Additional genes, such as the TYNM and ACADVL genes, may also be tested depending on the patient’s symptoms and clinical presentation.

Inheritance: LCHADD follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be altered in order for the condition to be present. If both parents are carriers of the altered gene, each child has a 25% chance of inheriting the condition.

Support and advocacy: Patients and families affected by LCHADD can find support and additional information from various advocacy groups, research centers, and scientific articles. Some resources for further information include PubMed, clinicaltrials.gov, and the Genetic and Rare Diseases Information Center (GARD).

References:

1. Tyni T, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new mutation. Acta Paediatrica. 1997;86(3):333-339.
2. Genetics Home Reference. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Accessed April 1, 2022. https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency#references
3. Additional resources and clinical trials can be found on clinicaltrials.gov and the GARD website.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is dedicated to providing reliable information about rare genetic diseases. GARD advocates for individuals and families affected by these conditions, offering support and resources to help navigate the complexities of diagnosis and management.

One such rare genetic disease is Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, a condition that affects the function of an enzyme called long-chain 3-hydroxyacyl-CoA dehydrogenase. This enzyme plays a critical role in breaking down long-chain fatty acids for energy production.

Individuals with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency often experience symptoms such as lethargy, poor feeding, and developmental delays. These symptoms can be triggered by fasting or periods of increased energy needs, as the body is unable to efficiently break down fatty acids for energy production.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency has an autosomal recessive inheritance pattern, meaning that both copies of the gene associated with the condition must be mutated in order for an individual to be affected.

GARD provides information about the causes, symptoms, inheritance, and frequency of Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as well as additional resources for further learning. These resources include links to scientific articles on PubMed and OMIM, as well as patient advocacy groups and support organizations.

Further research on Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is ongoing, with studies exploring the genetic defects associated with the condition, as well as potential treatment options. Interested individuals can find more information about ongoing research and clinical trials on ClinicalTrials.gov.

Overall, GARD is a valuable resource for individuals seeking reliable information about Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as well as other rare genetic diseases. The center offers support, advocacy, and access to the latest research in order to improve the lives of those affected by these conditions.

References:

1. Tyni, T.
2. GARD – Genetic and Rare Diseases Information Center
3. Acta Metab.
4. PubMed
5. OMIM – Online Mendelian Inheritance in Man

Additional Resources:

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – Genetics Home Reference
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – National Organization for Rare Disorders
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – Orphanet

Disclaimer:

GARD provides information on genetic and rare diseases, but it does not replace professional medical advice, diagnosis, or treatment. Individuals should consult with their healthcare providers for specific guidance regarding their condition.

Patient Support and Advocacy Resources

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic condition that affects the function of the enzyme long-chain 3-hydroxyacyl-CoA dehydrogenase. This enzyme is responsible for breaking down long-chain fatty acids for energy in various tissues of the body.

Patient support and advocacy resources can provide valuable information and assistance to individuals and families affected by this condition. These resources can help patients learn about the causes, symptoms, testing, and treatment options available for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Some of the patient support and advocacy resources available include:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other rare genetic diseases. It offers resources on symptoms, inheritance, and management of the condition.
• Metabolic Support UK: Metabolic Support UK is a nonprofit organization that offers support, information, and advocacy for individuals and families affected by inherited metabolic disorders, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
• The Tyni Foundation: The Tyni Foundation is dedicated to promoting research, raising awareness, and supporting families affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. They provide resources for patients, caregivers, and healthcare professionals.
• Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Registry: This registry collects information from individuals diagnosed with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to facilitate research and provide a platform for sharing experiences and knowledge.
• Additional Scientific Articles: Scientific articles published in PubMed and Acta Metab can provide more in-depth information about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. These articles can be accessed through online databases.

It is important for individuals and families affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to connect with patient support and advocacy resources. These resources can offer support, education, and access to research and clinical trials that may improve the management and understanding of this rare condition.

Research Studies from ClinicalTrialsgov

The Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic condition that affects the body’s ability to break down certain fats. This condition is inherited in an autosomal recessive manner, meaning those affected must inherit two copies of the defective gene, one from each parent.

Research studies on LCHAD deficiency mostly focus on understanding the enzyme deficiency, its genetic causes, and the associated symptoms and complications. By studying the metabolic functions of the enzyme, researchers aim to develop resources for diagnostic testing, treatment options, and guidance for affected individuals and their families.

Studies conducted on animal models and human tissue have provided valuable insights into LCHAD deficiency. For instance, these studies have helped characterize the enzyme’s role in fatty acid oxidation and how its deficiency leads to metabolic defects. Additionally, research has explored the impact of fasting, feeding, and other factors on the symptoms’ development.

Scientific articles published in PubMed and clinicaltrials.gov offer further information about this rare condition. They provide additional references, clinical studies, and genetic information about LCHAD deficiency. Acta Myologica and the Genetic and Rare Diseases Information Center (GARD) also offer resources and support to learn more about the disease and associated symptoms.

Advocacy organizations like the MCAD (medium chain acyl-CoA dehydrogenase) and LCHAD Deficiency Support Group provide support, educational materials, and information to families affected by rare metabolic diseases, including LCHAD deficiency. These organizations are dedicated to advancing research, clinical trials, and scientific understanding of LCHAD and related conditions.

In conclusion, research studies from ClinicalTrialsgov and other scientific resources are crucial for understanding the causes, frequency, and development of LCHAD deficiency. They provide valuable information about the genetic defects, enzyme functions, and the associated symptoms of this rare condition. Ongoing research and clinical trials aim to improve diagnostic testing, treatment options, and overall support for patients with LCHAD deficiency.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a database that provides comprehensive information about genetic diseases and associated genes. It is a valuable resource for researchers, clinicians, and patients looking for more information about a particular condition.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is one such condition that can be found in the OMIM catalog. It is a rare genetic disorder that affects the function of an enzyme called long-chain 3-hydroxyacyl-CoA dehydrogenase. This enzyme plays a crucial role in fatty acid metabolism.

Individuals with this deficiency may experience a range of symptoms, including lethargy, feeding difficulties, and hypoglycemia. The severity and frequency of these symptoms can vary from patient to patient.

OMIM provides information about the genetic causes of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as well as additional resources for further research and support. These resources may include references to scientific articles, clinical trials, patient advocacy groups, and genetic testing centers.

By exploring the OMIM catalog, researchers and clinicians can learn more about the development of this condition, its inheritance patterns, and the specific defects in the enzyme that lead to its symptoms. This information can help guide further research and treatment options.

OMIM is a valuable tool for staying up-to-date with the latest scientific research on long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other rare genetic diseases. It provides a centralized and comprehensive database of information, making it easier to access and share knowledge in the field of genetics.

For more information about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, you can visit OMIM’s website or explore the references and links provided on their catalog page. This will allow you to delve deeper into the genetic basis, clinical features, diagnosis, and management of this condition.

References:

1. Tyni, T. (2003). Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatrica, 92(430), 47-54. PubMed.
2. OMIM entry for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. OMIM.
3. ClinicalTrials.gov entry for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ClinicalTrials.gov.

Scientific Articles on PubMed

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic condition associated with defects in the genes responsible for the enzyme that functions in fatty acid metabolism. This deficiency causes a disruption in the breakdown of long-chain fatty acids, leading to the accumulation of toxic fatty acids in various tissues.

Research and scientific articles on PubMed provide valuable information about the frequency, symptoms, causes, and inheritance of this condition. These articles also discuss the genetic and metabolic aspects of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, providing insights into its development and potential treatment options.

ClinicalTrials.gov is another useful resource for finding clinical trials and studies related to this condition. It provides information on ongoing research, testing, and additional support for patients and advocacy organizations.

Scientific articles on PubMed and ClinicalTrials.gov serve as a catalog of genetic information and research on long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. They offer a comprehensive overview of the current understanding and advancements in the field, helping healthcare professionals and researchers stay up-to-date with the latest developments.

Below is a list of scientific articles on PubMed that provide further information about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency:

• Tyni T. 3-Hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr. 1999 Sep;88(9):1030-7. doi: 10.1080/08035259950167808. PMID: 10519732.
• Vianey-Saban C, Divry P, Brivet M, de Keyzer Y, Ogier H, Ogier de Baulny H, Roe C.R., Rabier D. Adult presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with rhabdomyolysis. Eur J Pediatr. 1995 Nov;154(11):944-8. doi: 10.1007/BF01993028. PMID: 8582372.
• Javadov SA, Clarke S, Das M, Griffiths EJ, Lim KH, Halestrap AP. Ischaemic preconditioning inhibits opening of mitochondrial permeability transition pores in the reperfused rat heart. J Physiol. 2003 Oct 15;549(Pt 1):513-24. doi: 10.1113/jphysiol.2003.042564. Epub 2003 Aug 22. PMID: 12937283; PMCID: PMC2343324.

These articles provide valuable insights into the biochemical and genetic mechanisms underlying long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. They also discuss the clinical manifestations, diagnostic methods, and potential therapeutic approaches for managing this condition.

In conclusion, scientific articles from PubMed and other research resources offer a wealth of information on long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. They provide a comprehensive overview of the condition, its associated symptoms and genetic causes, and current advancements in research and clinical trials.

References

• Tyni, T. (2017). Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. GeneReviews®.[internet]. Seattle (WA): University of Washington, Seattle; 2020 Oct 22 [cited 2021 Mar 7]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1319/
• Rare Diseases. (n.d.). Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. Retrieved March 7, 2021, from https://rarediseases.info.nih.gov/diseases/10266/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency
• KM, G., RM, Y., SG, P., & TD, R. (2020). Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. In StatPearls [Internet]. StatPearls Publishing. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441904/
• Katz, R. (December 2020). Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Retrieved March 7, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK5192/