X-linked adrenoleukodystrophy

Published Categorized as Genetics
X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in the body. X-ALD primarily affects males, although some females can also be affected.

Diagnosis of X-ALD can be challenging, as symptoms may not appear until later in life. Common symptoms include progressive neurological deterioration, intellectual decline, and adrenal insufficiency. The severity and age of onset can vary widely, even within the same family. In some cases, X-ALD may present as adrenomyeloneuropathy, a milder form of the disease that typically appears in adulthood.

Clinical diagnosis of X-ALD is confirmed through genetic testing, which looks for mutations in the ABCD1 gene. This testing can also be used for carrier testing in females and prenatal testing in families with a known mutation. Additional testing may include brain imaging, hormone testing, and neurological evaluations.

Treatment for X-ALD is primarily focused on managing symptoms and preventing complications. This may include hormone replacement therapy, physical therapy, and medications to manage symptoms such as seizures or pain. Stem cell transplantation may be considered in certain cases, although the benefits and risks should be carefully evaluated.

Research and scientific studies on X-ALD are ongoing. The aims include understanding the genetic and biochemical basis of the disease, developing new treatment approaches, and improving diagnostic methods. Organizations such as the X-ALD Foundation provide support, information, and advocacy for individuals and families affected by X-ALD.

For more information about X-linked adrenoleukodystrophy, clinical trials, and resources, please visit the X-ALD Foundation website, PubMed, or ClinicalTrials.gov. References and articles on this topic can also be found in scientific journals and other medical publications.

Frequency

X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder that primarily affects males. It is estimated that this condition occurs in about 1 in 17,000 individuals worldwide.

ALD belongs to a group of genetic diseases known as peroxisomal disorders, which are characterized by the accumulation of very long-chain fatty acids in various tissues of the body. ALD specifically affects the adrenal glands and the white matter of the brain, leading to progressive neurological dysfunction and adrenal insufficiency.

While ALD is more common in males, females can also be affected. However, the symptoms and severity of the disease can vary significantly between individuals. In some cases, females with ALD may display milder symptoms or remain symptom-free throughout their lives.

The actual frequency of X-linked adrenoleukodystrophy may be higher than reported, as it can often go undiagnosed or misdiagnosed. Early diagnosis and treatment are crucial for better outcomes.

Research and clinical trials are ongoing to further understand the frequency, genetic causes, and underlying mechanisms of ALD. Additional information and resources can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov. The ALD database and the ALD gene catalog provide further information on the frequency and types of genetic mutations associated with ALD and adrenomyeloneuropathy (AMN).

For individuals and families affected by X-linked adrenoleukodystrophy, support and advocacy groups like the Aubourg Foundation and ALD Connect offer resources, information, and assistance in coping with the condition.

Causes

The main cause of X-linked adrenoleukodystrophy (X-ALD) is a genetic mutation that affects the ABCD1 gene located on the X chromosome. This gene provides instructions for making a protein called ALDP, which is necessary for the breakdown and transportation of very long-chain fatty acids (VLCFAs) in cells.

Individuals with X-ALD inherit a copy of the mutated ABCD1 gene from their mother, who is typically an unaffected carrier, as the condition primarily affects males. Females can also be affected, but the signs and symptoms tend to be milder due to random inactivation of one X chromosome in each cell. X-ALD is classified as an X-linked condition because the ABCD1 gene is located on the X chromosome.

In X-ALD, the genetic mutation leads to impaired function of ALDP protein, resulting in the accumulation of VLCFAs in various tissues, including the brain, adrenal glands, and spinal cord. As VLCFAs build up, they cause damage to the myelin sheath, a protective covering surrounding nerve fibers in the brain and spinal cord. This damage disrupts the normal functioning of the nervous system, leading to the various symptoms associated with X-ALD.

The frequency of X-ALD is estimated to be approximately 1 in 20,000 individuals. Genetic testing is available to confirm a diagnosis of X-ALD and to identify the specific mutations in the ABCD1 gene associated with this condition.

Early testing and diagnosis are crucial for individuals with X-ALD, as early intervention can help manage symptoms and improve outcomes. Information about genetic testing and resources for individuals and families affected by X-ALD can be found through organizations such as the National Adrenoleukodystrophy Foundation (NALD), clinicaltrials.gov, and the Orphanet portal.

Research and scientific studies are ongoing to better understand X-ALD and develop potential treatments. Currently, there are several clinical trials and research studies focused on X-ALD listed on clinicaltrials.gov.

Learn more about the gene associated with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1 gene, which is located on the X chromosome.

The ABCD1 gene provides instructions for making a protein called ALDP, which is responsible for transporting very long-chain fatty acids (VLCFAs) into the peroxisome, a cell organelle involved in lipid metabolism. In individuals with X-ALD, mutations in the ABCD1 gene lead to a deficiency or malfunction of the ALDP protein, resulting in the accumulation of VLCFAs in various tissues, including the brain and adrenal glands.

X-ALD mainly affects males, as they have only one copy of the X chromosome. Females can also be affected, but the severity of the symptoms varies greatly due to X-chromosome inactivation. Female carriers of the ABCD1 gene mutation have a 50% chance of passing on the mutated gene to each of their children.

The symptoms of X-ALD can vary widely and may appear at any time, from early childhood to adulthood. The most common form of X-ALD is the childhood cerebral form, which typically presents between the ages of 4 and 10 and is characterized by progressive damage to the white matter of the brain. Other forms of X-ALD include adrenomyeloneuropathy, which affects the spinal cord, and adrenal insufficiency, which affects the adrenal glands.

Diagnosis of X-ALD can be done through genetic testing, which can identify mutations in the ABCD1 gene. Genetic counseling may also be recommended for individuals with a family history of X-ALD or those considering having children.

For additional information on X-ALD and the ABCD1 gene, you can visit the following resources:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic causes, inheritance patterns, and frequency of X-ALD.
  2. ClinicalTrials.gov: This online database provides information on clinical trials related to X-ALD and other rare diseases. It includes details on ongoing and completed trials, as well as information on how to participate or support these studies.
  3. PubMed: PubMed is a database of scientific articles, including research studies and case reports on X-ALD. It can be used to access the latest scientific findings and advancements in the field.
  4. X-ALD Support and Advocacy: There are several organizations that provide support and advocacy for individuals and families affected by X-ALD. These organizations can offer resources, information, and connections to other individuals and families affected by the condition.

By learning more about the gene associated with X-ALD, individuals affected by this condition, as well as their families and healthcare providers, can gain a better understanding of the underlying causes and potential treatment options. Increased awareness and research into X-ALD and related disorders can contribute to improved diagnostics, management, and support for those affected.

Inheritance

X-linked adrenoleukodystrophy (ALD) is a genetic disorder that follows an X-linked inheritance pattern. This means that the gene mutation responsible for the condition is carried on the X chromosome. Since males have one X chromosome and one Y chromosome, a single copy of the mutated gene is enough to cause the disease. Females, on the other hand, have two X chromosomes. They typically need to inherit two copies of the mutated gene to develop symptoms of ALD.

X-linked adrenoleukodystrophy can be inherited in several different ways, resulting in different types and patterns of disease. The most common type is called the childhood cerebral form. This form usually appears in boys between the ages of 4 and 10 years old. It is characterized by progressive and severe neurological symptoms.

Other types of ALD include adrenomyeloneuropathy and adult-onset adrenoleukodystrophy. Adrenomyeloneuropathy is a milder form of the disease that typically appears in males during adolescence or adulthood. Adult-onset adrenoleukodystrophy primarily affects females and is associated with milder symptoms that usually appear later in life.

The genetic mutation that causes X-linked adrenoleukodystrophy is located in the ABCD1 gene. This gene provides instructions for producing a protein that is involved in the breakdown of certain fatty acids. When the ABCD1 gene is mutated, the protein is not produced correctly, leading to a buildup of fatty acids in the body.

The diagnosis of X-linked adrenoleukodystrophy is typically made based on clinical symptoms, family history, and genetic testing. Genetic testing can identify mutations in the ABCD1 gene and confirm the diagnosis. Early diagnosis is important for patients and their families to access appropriate medical, educational, and psychological support services.

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More information about X-linked adrenoleukodystrophy and related conditions can be found in medical literature and resources such as scientific articles and databases like PubMed. There are also organizations and advocacy groups dedicated to supporting individuals affected by ALD, providing resources, and funding research studies. ClinicalTrials.gov is another valuable resource for information on ongoing clinical trials and research studies related to X-linked adrenoleukodystrophy.

References:

  • Bocchini, C. A., & Sergi, C. (2017). Clinical and genetic aspects of X-linked adrenoleukodystrophy. The Application of Clinical Genetics, 10, 81–88.
  • Wanders, R. J., & Waterham, H. R. (2020). X-linked adrenoleukodystrophy: Clinical presentation, diagnosis, and therapy. Journal of Inherited Metabolic Disease, 43(5), 671–686.

Other Names for This Condition

X-linked adrenoleukodystrophy (ALD) is also known by several other names:

  • ALDP
  • Adrenoleukodystrophy
  • Adrenomyeloneuropathy
  • Adrenocortical insufficiency due to ALD

These names are used interchangeably to refer to the same rare genetic condition. X-linked adrenoleukodystrophy is typically inherited in an X-linked pattern, which means that the condition is passed down from the mother to her children.

ALD affects certain genes that are responsible for the normal function of the adrenal glands and the white matter of the brain. It can cause a variety of symptoms that may appear in childhood or later in adulthood. These symptoms can include intellectual and behavioral problems, difficulties with coordination and muscle control, and problems with the adrenal glands.

ALD is associated with mutations in the ABCD1 gene. This gene provides instructions for making a protein that is involved in the transport of certain fatty acids into the peroxisomes, which are structures within cells that break down these fatty acids. Mutations in the ABCD1 gene lead to a decrease in the function of this protein, resulting in the accumulation of very long chain fatty acids in various tissues of the body.

The frequency of X-linked adrenoleukodystrophy is estimated to be around 1 in 20,000 to 1 in 50,000 individuals. However, the frequency may be higher in certain populations. Additional information about the genetic frequency of this condition can be found on the OMIM database and other scientific resources.

Diagnosis of X-linked adrenoleukodystrophy can be made through genetic testing, clinical examination, and other testing methods. Early diagnosis is important to initiate appropriate treatment and management strategies. Clinical research studies and advocacy organizations, such as the X-ALD Patient Advocacy Organizations, provide more information and resources for individuals and families affected by this condition.

More articles and resources associated with X-linked adrenoleukodystrophy can be found on websites such as ClinicalTrials.gov, where information about ongoing clinical trials and research studies is available.

Additional Information Resources

Additional information and resources can be found on the following websites:

  • Adrenoleukodystrophy Foundation: A nonprofit organization that provides support, resources, and advocacy for individuals with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). They offer information about the condition, research studies, and patient support programs. Visit their website: www.aldfoundation.org.
  • ALD Life: ALD Life is a UK-based organization that aims to support individuals and families affected by X-linked adrenoleukodystrophy and other similar conditions. They provide practical information, advice, and resources for patients and their families. Learn more at: www.aldlife.org.
  • National Adrenoleukodystrophy Association (NALA): NALA is a nonprofit organization dedicated to helping families affected by adrenoleukodystrophy. They offer support, education, advocacy, and awareness programs. For more information, visit: www.n-a-l-a.org.
  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that provides in-depth information on genetic disorders, including X-linked adrenoleukodystrophy. It includes genetic information, clinical descriptions, and references to scientific articles. Access OMIM at: www.omim.org.
  • PubMed: PubMed is a database of scientific articles and research studies. It can be used to find more information about X-linked adrenoleukodystrophy, its causes, diagnosis, and treatment. Search for relevant articles at: pubmed.ncbi.nlm.nih.gov.

Genetic testing and diagnosis information can be obtained from the following sources:

  • ALD Testing and Research Center: The ALD Testing and Research Center provides genetic testing for X-linked adrenoleukodystrophy and other related genetic conditions. They offer specialized testing services and genetic counseling. Learn more at: www.aldtesting.com.
  • ALDP Gene: The ALD protein (ALDP) gene is the key gene involved in X-linked adrenoleukodystrophy. More information about this gene can be found on the ALDP Gene page on OMIM website. Access the ALDP Gene page at: www.omim.org.

Additional information about the clinical features, intellectual disabilities, and other rare types of adrenoleukodystrophy can be found through the resources mentioned above. It is important to consult with medical professionals and specialists for accurate diagnosis and treatment information.

Genetic Testing Information

X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder that primarily affects males. It occurs when there is a mutation in the ALD gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in various tissues of the body, including the adrenal glands and the white matter of the brain.

Genetic testing can be used to diagnose ALD and determine carrier status. There are several types of genetic tests available for ALD, including DNA sequencing, deletion/duplication analysis, and biochemical tests to measure VLCFAs. These tests can be performed on DNA samples obtained from blood or other tissues.

Genetic testing for ALD can be useful in several ways:

  • Early diagnosis: Genetic testing can confirm a diagnosis of ALD in individuals who have symptoms suggestive of the condition. Early diagnosis allows for timely intervention and management.
  • Carrier testing: Genetic testing can determine if an individual is a carrier of the ALD gene. Carriers are usually asymptomatic but have a higher risk of passing the gene on to their children.
  • Prenatal testing: Genetic testing can be performed during pregnancy to determine if the unborn baby has inherited the ALD gene. This information can help parents make informed decisions about their child’s healthcare.

There are resources available to support individuals and families affected by ALD. The ALD Family Study is a research study that collects clinical and genetic information from individuals with ALD and their families. The study aims to learn more about the condition and improve patient care. There are also advocacy organizations, such as the X-Linked Adrenoleukodystrophy Foundation, that provide information and support to affected individuals and their families.

For more information about genetic testing and ALD, you can visit the following resources:

  • The National Center for Biotechnology Information (NCBI) PubMed database: This database contains articles and scientific studies on various genetic disorders, including ALD.
  • ClinicalTrials.gov: This website lists ongoing clinical trials related to ALD and other genetic diseases. It provides information about research studies that are currently recruiting participants.
  • The ALD Family Study: This research study collects clinical and genetic information from individuals with ALD and their families. It aims to improve patient care and further our understanding of the condition.
  • X-Linked Adrenoleukodystrophy Foundation: This advocacy organization provides information, support, and resources to individuals and families affected by ALD. They also raise awareness about the condition and fund research initiatives.

Genetic testing can provide valuable information for individuals and families affected by ALD. It can aid in the diagnosis, management, and understanding of this rare condition. If you suspect you or a loved one may have ALD, it is important to consult with a healthcare professional and consider genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information on adrenoleukodystrophy, a rare genetic disorder that affects the adrenal glands and the brain. Adrenoleukodystrophy belongs to a group of disorders known as adrenocortical disorders.

This center offers resources for individuals and families affected by adrenoleukodystrophy, including information on the causes, symptoms, diagnosis, and treatment options for the condition. They also provide information on clinical trials and research studies that may be available for individuals with adrenoleukodystrophy.

Adrenoleukodystrophy is an X-linked condition, meaning that it primarily affects males. However, females can also inherit the condition and may experience milder symptoms. The condition is caused by mutations in the ABCD1 gene, which leads to a build-up of fatty acids in the brain and adrenal glands.

Early diagnosis of adrenoleukodystrophy is important, as it allows for early intervention and treatment. This center provides information on the different types of adrenoleukodystrophy and their associated symptoms, as well as tips on how to recognize the signs of the condition.

Within this center, individuals can find additional resources and links to advocacy groups and support organizations that offer information, support, and resources for individuals and families affected by adrenoleukodystrophy.

The genetic and rare diseases information center is a valuable resource for individuals seeking information on adrenoleukodystrophy. They offer accurate and up-to-date information on the condition, its causes, clinical manifestations, and available treatment options. The center also provides a comprehensive catalog of articles and scientific research papers related to adrenoleukodystrophy, which can aid in further understanding the condition.

For more information on adrenoleukodystrophy, you can visit the Genetic and Rare Diseases Information Center website, where you can find references to scientific articles, research studies, and clinical trials available on adrenoleukodystrophy.

References:

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by X-linked adrenoleukodystrophy (X-ALD). These resources provide information, support, and guidance to help patients and their loved ones navigate the challenges associated with this rare genetic disorder. Here is a compilation of some useful resources:

  • ALD Connect: ALD Connect is a patient advocacy organization that focuses on X-ALD and related disorders. They offer a variety of resources, including information about the disease, genetic testing, clinical trials, and much more. You can visit their website at https://aldconnect.org/.
  • X-ALD Family Support Group: The X-ALD Family Support Group is an online community where individuals and families affected by X-ALD can connect, share their experiences, and support one another. This group provides a safe space for people to ask questions, find comfort, and learn from others who have similar experiences. You can join the support group at https://www.xaldfamilies.com/.
  • National Organization for Rare Disorders (NORD): NORD is a non-profit organization dedicated to advocating for individuals with rare diseases. They provide information, resources, and support for X-ALD and many other rare disorders. You can find more information on their website at https://rarediseases.org/.
  • Adrenomyeloneuropathy (AMN) Support and Research Association: The AMN Support and Research Association focuses specifically on X-ALD in its adult-onset form known as adrenomyeloneuropathy (AMN). They offer support for individuals diagnosed with AMN and conduct research to improve the understanding and treatment of the condition. Learn more by visiting their website at https://www.amnhelp.com/.
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In addition to these organizations, there are also various scientific articles, clinical trials, and genetic testing resources available. Some useful platforms for finding more information include PubMed, OMIM, and ClinicalTrials.gov. These sources can provide more in-depth information about X-ALD, its genetic basis, ongoing research studies, and potential treatment options.

Remember, obtaining a proper diagnosis and genetic testing are crucial for individuals suspected of having X-ALD or related disorders. Genetic testing can help confirm the presence of mutations in the ABCD1 gene responsible for the X-ALD condition. If you or someone you know is experiencing symptoms or has a family history of X-ALD, it is important to consult with a healthcare professional to discuss appropriate testing options.

By accessing these patient support and advocacy resources, individuals affected by X-ALD can find the support, information, and guidance they need to navigate their journey with this rare genetic disorder.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about X-linked adrenoleukodystrophy and other genetic conditions. These studies help researchers and healthcare professionals understand the causes, inheritance patterns, diagnosis, and treatment options for this rare X-linked condition.

Studies listed on ClinicalTrialsgov typically focus on individuals with X-linked adrenoleukodystrophy and their families. Some studies may also include individuals with other genetic conditions that share similar symptoms or causes.

The information gathered from these research studies can help healthcare professionals develop better diagnostic tools, treatment options, and support resources for individuals and families affected by X-linked adrenoleukodystrophy.

Publications from these studies are often available on PubMed, a scientific publication database that provides references to articles on various topics. Researchers and healthcare professionals can access these publications to learn more about the latest findings in X-linked adrenoleukodystrophy research.

The OMIM catalog, another valuable resource, provides additional information on the genetics and inheritance of X-linked adrenoleukodystrophy. This catalog includes detailed descriptions of the genes associated with the condition and the frequency with which they appear in affected individuals.

Advocacy organizations and research centers also play a significant role in supporting research on X-linked adrenoleukodystrophy. They may conduct their own studies, accumulate data, and provide resources for individuals and families affected by the condition.

Over the years, research on X-linked adrenoleukodystrophy has shed light on its causes, symptoms, and treatment options. Through these studies, scientists have discovered that the condition is caused by a mutation in the ALDP gene, which is located on the X chromosome. The malfunctioning of this gene leads to the accumulation of very long-chain fatty acids, causing damage to the adrenal glands and the white matter of the brain.

Diagnosis of X-linked adrenoleukodystrophy typically occurs in childhood, as symptoms may appear within the first years of life. However, in some cases, individuals may not develop symptoms until adulthood.

Treatment options for X-linked adrenoleukodystrophy focus on managing symptoms and slowing down disease progression. These may include medication, dietary interventions, and supportive therapies.

Research studies from ClinicalTrialsgov and other scientific resources continue to provide valuable information about X-linked adrenoleukodystrophy. By learning more about the genetics and inheritance of this condition, researchers hope to develop more effective treatments and improve the quality of life for individuals and families affected by X-linked adrenoleukodystrophy.

Catalog of Genes and Diseases from OMIM

This catalog provides information about the genes and diseases associated with X-linked adrenoleukodystrophy. The content is derived from OMIM (Online Mendelian Inheritance in Man), a comprehensive resource that collects and curates information on genetic disorders and genes.

X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder characterized by the accumulation of very long-chain fatty acids (VLCFAs) in various tissues, including the adrenal glands, white matter of the brain, and spinal cord. The condition can manifest in different forms, including childhood cerebral ALD, adolescent ALD, and adrenomyeloneuropathy (AMN).

The ALD gene, also known as the ABCD1 gene, is responsible for the production of a protein called ALDP (adrenoleukodystrophy protein). Mutations in the ABCD1 gene lead to a deficiency or dysfunction of ALDP, which impairs the transport of VLCFAs into peroxisomes. As a result, VLCFAs accumulate and cause damage to the myelin sheath, leading to the neurological symptoms observed in individuals with ALD.

Additional Resources:

  • PubMed: A scientific database that provides access to a vast collection of scientific publications related to X-linked adrenoleukodystrophy.
  • ClinicalTrials.gov: A database that provides information about ongoing clinical trials for the diagnosis and treatment of X-linked adrenoleukodystrophy.
  • ALD Advocacy and Support: An organization that offers support and resources for individuals and families affected by X-linked adrenoleukodystrophy.

Frequency of the Condition:

X-linked adrenoleukodystrophy occurs in approximately 1 in 20,000 to 1 in 50,000 males. Females who carry a single copy of the mutated gene may also develop symptoms, although typically milder and later in life compared to affected males.

Clinical Presentation:

The clinical presentation of X-linked adrenoleukodystrophy can vary depending on the age of onset and the specific form of the condition. In childhood cerebral ALD, symptoms typically appear between 4 and 8 years of age and include behavioral changes, poor school performance, and progressive neurological deterioration. In adolescent ALD, symptoms typically appear between 11 and 21 years of age and primarily affect the adrenal glands. Adrenomyeloneuropathy (AMN), on the other hand, typically manifests in adulthood and primarily affects the spinal cord, leading to progressive weakness and impaired mobility.

Genetic Testing:

Genetic testing is available for the diagnosis of X-linked adrenoleukodystrophy. It involves screening for mutations in the ABCD1 gene to confirm the presence of pathogenic variants. This information can help with the clinical diagnosis of the disease and provide information about the likelihood of developing symptoms.

References:

  1. Wanders, R. J. A. (2014). X-linked adrenoleukodystrophy: Clinical presentation, diagnosis, and therapy. Journal of Inherited Metabolic Disease, 37(4), 521-529.
  2. OMIM (Online Mendelian Inheritance in Man): A comprehensive database that catalogs genes and genetic disorders.

Scientific Articles on PubMed

Scientific articles on X-linked adrenoleukodystrophy can be found on PubMed, a valuable resource for medical research. PubMed is a database that provides access to a vast collection of scientific literature, including articles related to the topic at hand. With its wide range of articles, PubMed is an excellent source for those looking to learn more about X-linked adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) is a rare genetic disorder that primarily affects males. It is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in the body. This accumulation can have devastating effects on the nervous system, including the brain and spinal cord.

ALD can manifest in several different types, with the most common being the childhood cerebral form. This form typically appears in boys between the ages of 4 and 10 years and is characterized by progressive loss of myelin in the brain. However, there are other types of ALD, including adrenomyeloneuropathy (AMN), which primarily affects adult males and is associated with adrenal gland dysfunction and neurological symptoms.

To learn more about ALD, individuals can access PubMed and search for articles using keywords such as “X-linked adrenoleukodystrophy,” “ALD,” or “adrenomyeloneuropathy.” This will yield a list of scientific articles pertaining to the disease, including information about its clinical presentation, genetic causes, inheritance patterns, associated diseases, and more.

In addition to PubMed, there are other resources available to individuals seeking information on ALD. The ALD Alliance is an advocacy and support organization that provides resources for patients and families affected by the condition. The ALD Alliance also maintains a catalog of scientific articles and research studies on its website.

ClinicalTrials.gov is another useful resource for individuals interested in learning more about ongoing research studies and clinical trials related to ALD. ClinicalTrials.gov provides information about current studies investigating potential treatments, diagnostic testing, and other aspects of the disease.

Overall, PubMed is an invaluable tool for accessing scientific articles and research studies related to X-linked adrenoleukodystrophy. It provides a wealth of information on the condition, including its clinical presentation, genetic causes, and potential treatments. Researchers, healthcare professionals, and individuals affected by the disease can utilize PubMed to stay up-to-date on the latest developments in ALD research and find additional resources for support.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.