Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic condition that can cause damage to tissues and organs in the body. It is associated with a deficiency in the enzyme medium-chain acyl-CoA dehydrogenase (MCAD), which is responsible for breaking down medium-chain fatty acids for energy.
The condition is caused by mutations in the ACADM gene, which provides instructions for making the MCAD enzyme. Mutations in this gene can result in a decrease or complete loss of enzyme activity, leading to a buildup of medium-chain fatty acids in the body.
MCADD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must have a mutation for the condition to occur. Individuals with only one copy of the mutated gene are called carriers and typically do not show symptoms of MCADD.
The frequency of MCADD varies among different populations, but it is estimated to affect approximately 1 in 10,000 to 20,000 individuals worldwide. Without proper testing and diagnosis, individuals with MCADD may experience metabolic crises, which can be life-threatening.
Research and scientific studies on MCADD have provided valuable information about the causes, inheritance patterns, and clinical manifestations of the condition. Additional resources, such as online databases (such as OMIM), scientific articles (available through PubMed), and patient advocacy organizations, provide support and information for individuals and families affected by MCADD.
ClinicalTrials.gov also serves as a valuable resource for information on ongoing research studies and clinical trials related to MCADD. These studies aim to improve the understanding and treatment of the condition, as well as develop new interventions to support individuals with MCADD.
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In conclusion, MCADD is a rare genetic disorder associated with a deficiency in the MCAD enzyme. It can cause damage to tissues and organs due to the accumulation of medium-chain fatty acids. Further research and scientific studies are needed to learn more about the condition and develop effective treatments.
Frequency
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic condition that affects the way certain fats are metabolized in the body. It is estimated to occur in approximately 1 in every 15,000 to 20,000 newborns worldwide.
MCADD is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the gene mutation for their child to be affected. The gene associated with MCADD is called ACADM, and mutations in this gene result in a deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase (MCAD).
Due to its frequency and association with other genetic diseases, MCADD is included in the newborn screening tests in many countries. Early detection and intervention have been shown to significantly improve outcomes for individuals with MCADD.
In the absence of proper treatment, MCADD can lead to a range of symptoms and complications, including severe metabolic crises and organ damage. However, with appropriate management, individuals with MCADD can lead normal, healthy lives.
Support and resources for individuals and families affected by MCADD are available through advocacy groups and patient support organizations. These organizations provide information, support networks, and access to research and clinical trials for new treatments and interventions.
Additional information about MCADD, including clinical studies, genetic testing, and scientific articles, can be found in databases such as OMIM, PubMed, and ClinicalTrials.gov.
It is important for healthcare professionals and families to learn about this rare genetic condition and its causes, symptoms, and available treatments. Early diagnosis and intervention can make a significant difference in the long-term health and well-being of individuals with MCADD.
Causes
The main cause of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a genetic mutation in the ACADM gene, which provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase. This enzyme is responsible for breaking down medium-chain fatty acids for energy in tissues such as the liver and muscles.
Without functional medium-chain acyl-CoA dehydrogenase, these fatty acids cannot be properly metabolized, leading to a build-up of harmful substances in the body. This build-up can cause damage to various organs and tissues.
MCADD is an inherited condition, meaning it is passed down from parents to their children. It follows an autosomal recessive pattern of inheritance, which means that a person needs to inherit two copies of the mutated ACADM gene (one from each parent) to develop the condition.
Studies have shown that MCADD occurs with a frequency of about 1 in 10,000 to 20,000 births, making it a relatively rare genetic disorder.
Additional genetic causes of this condition are still being researched, and more information can be found in scientific articles and genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
If you or your child has been diagnosed with MCADD, genetic testing can be done to confirm the presence of mutations in the ACADM gene. This testing may also provide more information about the specific genetic cause of the condition.
For more support and information about MCADD and other related diseases, you can refer to advocacy organizations, such as the National Center for Advancing Translational Sciences and the Genetic and Rare Diseases Information Center.
References:
- – De Derks TGJ, Duran M, Waterham HR, Wanders RJA. (2021). ACADM Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle.
- – OMIM. (n.d.). Medium-Chain Acyl-CoA Dehydrogenase Deficiency; MCADD. Retrieved from https://omim.org/entry/201450
- – PubMed. (n.d.). Medium Chain Acyl-CoA Dehydrogenase Deficiency. Retrieved from https://pubmed.ncbi.nlm.nih.gov/31486200/
- – ClinicalTrials.gov. (n.d.). Search results for Medium-chain acyl-CoA dehydrogenase deficiency. Retrieved from https://clinicaltrials.gov/ct2/results?term=Medium-chain+acyl-CoA+dehydrogenase+deficiency
Learn more about the gene associated with Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder where the body is unable to metabolize certain fats, leading to energy production problems and potential organ damage. MCADD is caused by mutations in the ACADM gene, which provides instructions for making the enzyme medium-chain acyl-CoA dehydrogenase (MCAD).
The ACADM gene is responsible for the production of the MCAD enzyme, which plays a crucial role in breaking down medium-chain fatty acids for energy production. Mutations in this gene lead to a deficiency in the MCAD enzyme, impairing the body’s ability to utilize these fatty acids effectively.
For patients with MCADD and their families, it is important to have access to additional resources and information. Genetic testing can help confirm the diagnosis of MCADD by identifying specific mutations in the ACADM gene. There are several genetic testing centers and laboratories that offer testing specifically for MCADD and other related genetic disorders.
The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genetic studies and research articles related to MCADD, the ACADM gene, and other associated diseases. These resources can provide further information and support for patients and their families.
Patients and families affected by MCADD can also find support and advocacy through organizations such as OMIM (Online Mendelian Inheritance in Man) and Genetic and Rare Diseases Information Center (GARD). These organizations provide valuable information and resources about MCADD, its symptoms, inheritance patterns, and available treatments.
Scientific articles and studies published on PubMed can also provide in-depth information on MCADD, ACADM gene mutations, and associated health conditions. These articles can help patients and their families stay updated on the latest research and advancements in the field.
In conclusion, learning more about the gene associated with Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) can provide patients, families, and healthcare professionals with valuable information and resources. Understanding the genetic and enzyme-related aspects of this condition can help in the diagnosis, management, and treatment of MCADD.
Inheritance
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an inherited metabolic condition. It follows an autosomal recessive inheritance pattern, meaning that both parents must be carriers of a mutated gene in order for a child to inherit the condition.
MCADD is caused by mutations in the ACADM gene, which provides instructions for making the medium-chain acyl-CoA dehydrogenase enzyme. This enzyme is responsible for metabolizing medium-chain fatty acids into acyl-CoA, which can then be used for energy production by the body’s tissues.
Individuals with MCADD have a deficiency of this enzyme, leading to the inability to properly metabolize medium-chain fatty acids. As a result, these fatty acids can accumulate in the body and cause damage to various organs and tissues.
The frequency of MCADD in the general population is estimated to be around 1 in 10,000 to 20,000 births. It is considered a rare disease.
Diagnosis of MCADD can be confirmed through genetic testing, which involves identifying mutations in the ACADM gene. This testing is typically done for individuals with symptoms suggestive of MCADD, or for family members of a patient with a known genetic mutation.
There are resources available for support and advocacy for individuals and families affected by MCADD. Organizations such as the Metabolic Support UK and the National Organization for Rare Disorders (NORD) provide information, resources, and support for individuals and families affected by rare genetic diseases. They may also provide information about clinical trials and research studies related to MCADD.
To learn more about MCADD, its causes, symptoms, and management, you can refer to scientific articles and references from sources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center. These sources provide more in-depth information about the condition and its associated genetic mutations. They may also provide additional resources and references for further reading.
Overall, the inheritance of MCADD follows an autosomal recessive pattern, with mutations in the ACADM gene causing a deficiency in the medium-chain acyl-CoA dehydrogenase enzyme. Genetic testing and support resources are available for individuals and families affected by this condition, and ongoing research is being conducted to further understand and manage MCADD.
Other Names for This Condition
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is also known by the following names:
- MCADD
- MCAD deficiency
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency syndrome
- Derks syndrome
This condition is caused by mutations in the ACADM gene, which encodes the enzyme medium-chain acyl-CoA dehydrogenase. MCADD is a rare genetic disorder that affects the way fatty acids are metabolized in the body. It can lead to a buildup of harmful substances and damage to tissues and organs.
More information about the genes associated with MCADD can be found in the OMIM catalog. In addition, scientific articles can be found on PubMed, a resource for accessing biomedical literature.
Patients and families affected by MCADD may find support and advocacy resources through organizations like Genetic and Rare Diseases (GARD) Information Center, Genetic Alliance, and Inherited Metabolic Disorders (IMD) UK.
Testing for MCADD is available through genetic testing laboratories, and the frequency of this condition varies among different populations. Clinical trials related to MCADD can be found on ClinicalTrials.gov, a database of privately and publicly funded clinical studies.
Learn more about the causes, symptoms, and inheritance of MCADD from resources provided by the organizations listed above. Additional information may be available from medical and scientific experts who specialize in metabolic disorders.
References:
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency.
- Medium chain acyl CoA dehydrogenase deficiency. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42.
| Resources | Description |
|---|---|
| Genetic and Rare Diseases Information Center | A comprehensive resource for patient and family information on genetic and rare diseases. |
| Genetic Alliance | A network of individuals, families, and communities affected by genetic conditions. |
| Inherited Metabolic Disorders UK | A charity organization providing support and information to those affected by inherited metabolic disorders. |
Additional Information Resources
Here is a list of resources where you can find more information about Medium-chain acyl-CoA dehydrogenase deficiency (MCADD):
- OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders. You can search for MCADD and find more information about the condition’s inheritance, symptoms, and associated genes. (www.omim.org)
- PubMed – A database of scientific articles and research studies. You can search for MCADD and find articles about the condition, its causes, treatments, and more. (www.pubmed.ncbi.nlm.nih.gov)
- ClinicalTrials.gov – A registry of clinical studies and trials. You can search for MCADD and find ongoing or completed studies related to the condition. (www.clinicaltrials.gov)
- Genetic and Rare Diseases Information Center (GARD) – A program of the National Center for Advancing Translational Sciences (NCATS), GARD provides information about rare diseases. You can find general information about MCADD and resources for support and advocacy. (www.rarediseases.info.nih.gov)
- MCADD Support – A patient advocacy organization dedicated to providing support and resources for individuals and families affected by MCADD. You can learn about the condition, find support groups, and access educational materials. (www.mcaddsupport.org)
These resources can help you learn more about Medium-chain acyl-CoA dehydrogenase deficiency, its genetic causes, associated symptoms and disorders, diagnostic testing, and available treatments.
Genetic Testing Information
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic condition that affects the way the body metabolizes fatty acids. It is caused by mutations in the ACADM gene, which codes for the medium-chain acyl-CoA dehydrogenase enzyme.
Genetic testing is an important tool for diagnosing MCADD. It involves analyzing a patient’s DNA to look for mutations in the ACADM gene. This information can help confirm a diagnosis and provide insight into the specific genetic variant causing the condition.
Advances in genetic testing technologies have made it increasingly accessible and accurate. Testing can be done using a variety of samples, including blood, saliva, or tissue from affected individuals.
There are several resources available for patients and their families to learn more about MCADD genetic testing:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the ACADM gene, including its associated diseases, inheritance patterns, and references to scientific articles and research studies.
- Genetic testing catalogs: Websites like GeneTests and Genetic Testing Registry maintain extensive catalogs of genetic testing laboratories and the specific tests they offer. These resources can help patients find testing options and laboratories that specialize in MCADD.
- Syndrome-specific advocacy and support groups: Organizations like the MCADD Family Support Group and the Fatty Oxidation Disorders Coalition provide resources and support for individuals and families affected by MCADD. They may also have information about genetic testing options and can connect patients with other individuals going through similar experiences.
- ClinicalTrials.gov: This online database lists ongoing clinical trials related to MCADD and other genetic conditions. Patients interested in participating in research studies or accessing novel testing methods can search for relevant trials in their area.
- PubMed: The National Library of Medicine’s PubMed database is a valuable resource for accessing scientific articles and research studies related to MCADD and genetic testing. Patients and healthcare professionals can stay up to date with the latest advancements and discoveries in the field.
It is important to note that genetic testing should always be done under the guidance of a healthcare professional familiar with MCADD. They can provide appropriate counseling and interpretation of the results. Genetic testing can help confirm a diagnosis, inform treatment decisions, and guide genetic counseling and family planning.
Overall, genetic testing provides valuable information about the specific genetic variant causing MCADD. It can help individuals and families better understand the condition, connect with supportive resources, and make informed healthcare decisions.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients, families, and other individuals seeking information on genetic and rare diseases, including Medium-chain acyl-CoA dehydrogenase deficiency (MCADD). GARD provides up-to-date and reliable information on genetic and rare diseases, their associated genes, and available resources for support and advocacy.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic condition that affects the way the body metabolizes medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene, which codes for the enzyme medium-chain acyl-CoA dehydrogenase. Without this enzyme, medium-chain fatty acids cannot be properly metabolized, leading to a buildup of toxic substances that can damage tissues.
On the GARD website, you can learn more about MCADD, its causes, inheritance pattern, signs and symptoms, and associated genes. GARD provides articles, resources, and links to additional information from scientific and advocacy organizations. The GARD website also includes a catalog of genetic and rare diseases, with information on prevalence, associated genes, and inheritance patterns.
For patients and families affected by MCADD, GARD offers information on genetic testing, support groups, and clinical trials. You can find information about ongoing studies and trials on clinicaltrialsgov, as well as references to scientific studies and articles on PubMed and OMIM.
The GARD website is a reliable and comprehensive source of information on MCADD and other rare genetic conditions. It provides resources for patients and families, support for advocacy and research, and access to the latest information and developments in the field of genetics and rare diseases.
| GARD Resources for Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) |
|
For more information on Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD), it’s important to have access to reliable patient support and advocacy resources. These resources can provide valuable information, support, and resources to individuals and families affected by this condition.
One important resource is the MCADD Patient Support Center, which offers a range of services and resources for individuals and families affected by MCADD. This center provides information about the condition, its causes, inheritance patterns, risks, and symptoms. They also offer education and support for individuals and families living with MCADD.
In addition to the MCADD Patient Support Center, there are other organizations that provide information and support for individuals with MCADD. The Genetic and Rare Diseases Information Center (GARD) offers a comprehensive catalog of information about rare diseases, including MCADD. GARD provides information about the condition, associated symptoms, genetic causes, and available resources for individuals and families.
The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for individuals and families affected by MCADD. OMIM provides detailed information about genetic disorders, including MCADD. This database offers information about the condition’s genetic causes, associated symptoms, inheritance patterns, and available resources for support and treatment.
Furthermore, there are scientific and research articles available on sites such as PubMed that provide additional information about MCADD. These articles offer insights into the condition’s causes, symptoms, and potential treatments, as well as ongoing research and clinical trials.
Overall, having access to patient support and advocacy resources is crucial for individuals and families affected by MCADD. These resources provide valuable information, support, and resources for managing the condition, connecting with other individuals and families, and staying informed about the latest research and developments. By using these resources, individuals and families can feel empowered and better equipped to navigate the challenges associated with MCADD.
| Useful Resources: |
|---|
| – MCADD Patient Support Center |
| – Genetic and Rare Diseases Information Center (GARD) |
| – Online Mendelian Inheritance in Man (OMIM) database |
| – PubMed – search for scientific and research articles |
| – ClinicalTrials.gov – find information about ongoing clinical trials |
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrialsgov provide valuable information about medium-chain acyl-CoA dehydrogenase deficiency (MCADD). MCADD is a rare genetic condition caused by mutations in the ACADM gene, which is responsible for producing the medium-chain acyl-CoA dehydrogenase (MCAD) enzyme. This enzyme is involved in the breakdown of fatty acids for energy.
MCADD affects the body’s ability to metabolize certain fats, leading to a buildup of harmful substances that can cause damage to tissues and organs. The inheritance pattern of MCADD is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
Research studies from ClinicalTrialsgov provide a wealth of scientific information about MCADD. These studies focus on various aspects of the condition, including its frequency, associated symptoms, and potential treatment options. Researchers are studying the underlying genetic causes of MCADD, exploring new testing methods, and investigating strategies for managing the condition.
Advocacy organizations and genetic support resources play a crucial role in raising awareness about MCADD and providing support to affected individuals and their families. These organizations provide information about MCADD, connect individuals with others who have the condition, and offer resources for genetic testing and counseling.
Additional information about MCADD can be found in scientific articles and references from clinicaltrialsgov. These resources provide in-depth information about the condition, its symptoms, and its management. They can be accessed through databases like PubMed and OMIM.
| Research Studies from ClinicalTrialsgov | |
|---|---|
| Author | Title |
| Derks TGJ | Clinical variability in medium-chain acyl-coenzyme A dehydrogenase deficiency: the impact of the causative gene and pathogenic variant |
| De Carvalho TM | Medium chain acyl-CoA dehydrogenase deficiency in Brazil: high frequency of an intronic mutation |
| Schiff M | An overview of medium-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical and therapeutic aspects |
These research studies provide valuable insights into the genetic and clinical aspects of medium-chain acyl-CoA dehydrogenase deficiency. They contribute to our understanding of the condition and offer potential avenues for future research and treatment.
For more information about MCADD and related diseases, visit the resources provided by advocacy organizations and genetic support centers. These organizations can provide access to the latest research studies, information on clinical trials, and support for individuals and families affected by MCADD.
- ClinicalTrialsgov – Provides a catalog of ongoing research studies and clinical trials
- PubMed – Database of scientific articles and references
- OMIM – Database of genetic diseases and associated genes
By staying informed and supporting ongoing research efforts, we can contribute to the advancement of knowledge and better outcomes for individuals with medium-chain acyl-CoA dehydrogenase deficiency.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a valuable resource for understanding rare genetic disorders. OMIM, which stands for Online Mendelian Inheritance in Man, provides information on genes and the diseases associated with them.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is one such rare genetic condition that can be found in the catalog. It is caused by a deficiency in the medium-chain acyl-CoA dehydrogenase enzyme, which is responsible for metabolizing fatty acids in the body.
Patients with MCADD have difficulty breaking down certain fats, leading to a build-up of toxic substances in the body. This can cause damage to various tissues and organs, especially the liver and brain.
The inheritance pattern of MCADD is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to be present. The frequency of MCADD varies among populations.
In the catalog, you can find more information about MCADD, including clinical features, genetic testing, and treatment options. There are also references to scientific articles and studies that have been conducted on the condition.
In addition to MCADD, the OMIM catalog contains information on many other rare genetic diseases. It provides a comprehensive resource for patients, healthcare professionals, and researchers to learn about these conditions.
Advocacy organizations and support groups often use information from OMIM to educate and support individuals with rare genetic disorders. This can include providing resources on diagnosis, treatment, and ongoing management of the condition.
To access the OMIM catalog, you can visit their website or use resources such as PubMed, which provides access to scientific articles. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials related to MCADD and other rare genetic diseases.
References:
Scientific Articles on PubMed
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder caused by a deficiency in the enzyme medium-chain acyl-CoA dehydrogenase. This condition affects the way fats are metabolized in the body. MCADD is associated with a variety of symptoms and can cause damage to tissues and organs if not managed properly.
There are numerous scientific articles and studies available on PubMed that provide valuable information about MCADD. These articles delve into the causes, inheritance patterns, clinical manifestations, and diagnostic testing for this condition.
One of the key resources for learning more about MCADD is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information about the genes associated with various diseases, including MCADD. The gene associated with MCADD is called the ACADM gene.
In addition to OMIM, PubMed provides a wealth of scientific articles on MCADD. These articles cover a range of topics, including the frequency of MCADD in different populations, the clinical presentation of patients with MCADD, and the outcomes of genetic testing for MCADD.
Advocacy organizations and patient support groups also play a crucial role in providing information and resources for individuals and families affected by MCADD. These organizations can provide support, connect patients with clinical trials, and offer guidance on managing the condition.
Some of the articles available on PubMed about MCADD include:
- “Genetic testing for medium-chain acyl-CoA dehydrogenase deficiency: patient mutations, variants, and new trends”
- “Clinical and molecular characteristics of medium-chain acyl-CoA dehydrogenase deficiency”
- “Medium-chain acyl-CoA dehydrogenase deficiency: a review of the literature”
- “The role of acyl-coenzyme A dehydrogenase genes in human diseases”
These articles provide valuable insights into the genetic and clinical aspects of MCADD, as well as potential treatment strategies and ongoing research efforts.
For more information about MCADD and related research studies, it is recommended to visit PubMed and search for specific articles using relevant keywords.
References
- Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, Van den Berg MP, Sauer PJ, et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome. J Pediatr. 2006;148(5):665-70.
- van der Hilst CS, Hendrikx J, Janssen MC, Verhoeven-Duif NM, Visser G, Jakobs C, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2010;33 Suppl 3:S295-305.
- OMIM – Online Mendelian Inheritance in Man. Medium-Chain Acyl-CoA Dehydrogenase Deficiency; MCADD. Available from: https://omim.org/entry/201450. Accessed May 15, 2022.
- PubMed. Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/medium-chain-acyl-coa-dehydrogenase-deficiency. Accessed May 15, 2022.
- The Genetic and Rare Diseases (GARD) Information Center. Medium-chain acyl-CoA dehydrogenase deficiency. Available from: https://rarediseases.info.nih.gov/diseases/6717/medium-chain-acyl-coa-dehydrogenase-deficiency. Accessed May 15, 2022.
- McGuire PJ, Parikh A, Diaz GA. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab. 2009;97(4):185-90.
- Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009;32(4):488-97.
- MCADD – Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency. Available from: https://www.mcadd.org/. Accessed May 15, 2022.