Krabbe disease

Published Categorized as Genetics
Krabbe disease

Krabbe disease, also known as globoid cell leukodystrophy, is a rare and progressive genetic disorder that affects the central nervous system. It is caused by a deficiency of the enzyme beta-galactosylceramidase (GALC), which is responsible for breaking down a substance called galactosylceramide. Without GALC, galactosylceramide builds up in the body and damages the protective covering of nerve cells in the brain and other parts of the body.

Infants with Krabbe disease typically show symptoms within the first few months of life, including irritability, muscle weakness, and developmental delays. The disease progresses rapidly and can lead to severe neurological problems, including vision and hearing loss, difficulty swallowing, and seizures. The prognosis for infants with Krabbe disease is usually poor, with most affected individuals not surviving beyond early childhood.

Krabbe disease is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated GALC gene for their child to be affected. The gene responsible for Krabbe disease has been identified and is known as GALC. Genetic testing can be done to determine if an individual is a carrier of Krabbe disease. If both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected by the disease.

There is currently no cure for Krabbe disease. Treatment is focused on managing symptoms and providing supportive care. Research studies and clinical trials are ongoing to explore potential treatments and interventions for this rare condition. Resources such as the National Center for Advancing Translational Sciences, OMIM, PubMed, and ClinicalTrials.gov provide additional information on current studies, genetic testing, and available support for patients and families affected by Krabbe disease.

Overall, Krabbe disease is a rare genetic condition that causes severe neurological problems in affected individuals. The prevalence of the disease is estimated to be about 1 in 100,000 births. Early diagnosis and intervention are crucial for managing symptoms and improving quality of life for individuals with Krabbe disease.

Frequency

Krabbe disease is a rare genetic condition associated with a deficiency of the galactosylceramide beta-galactosidase enzyme, also known as galc. It is also referred to as globoid cell leukodystrophy. This rare disease has an incidence of about 1 in 100,000 live births. Krabbe disease is more common in certain ethnic groups, including individuals of Ashkenazi Jewish descent.

Without treatment, the disease progresses rapidly and leads to severe neurological damage. The early-onset form of Krabbe disease, also known as infantile Krabbe disease, typically begins within the first six months of life. The late-onset form, which is rarer, can present symptoms later in childhood, adolescence or adulthood.

Genetic testing is necessary to confirm a diagnosis of Krabbe disease. The GALC gene is the gene associated with this condition. If a certain mutation is found, it can confirm the diagnosis of Krabbe disease.

According to the OMIM catalog, more than 100 mutations in the GALC gene have been identified in individuals with Krabbe disease. The GALC gene provides instructions for making the galactosylceramidase enzyme, which is critical for breaking down a fatty substance called galactosylceramide. The deficiency of this enzyme leads to the buildup of galactosylceramide in the central nervous system, causing the characteristic symptoms of Krabbe disease.

In terms of inheritance, Krabbe disease follows an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated GALC gene, one from each parent, in order to develop the disease. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that the child will have Krabbe disease.

Research and clinical trials are ongoing to find better treatments and potential cures for Krabbe disease. The clinicaltrials.gov database may have information on current clinical trials related to Krabbe disease.

Patient advocacy groups, such as the KrabbeConnect, provide support, resources, and information for individuals and families affected by Krabbe disease. These organizations play a crucial role in raising awareness and providing support to patients and their families.

Additional information about Krabbe disease, including scientific articles and genetic testing resources, can be found on websites like PubMed, OMIM, and other scientific databases. These sources provide a wealth of knowledge on the causes, frequency, and management of rare genetic diseases like Krabbe disease.

Causes

The exact cause of Krabbe disease is a deficiency of the galactosylceramide beta-galactosidase enzyme (GALC). This genetic condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the abnormal gene for a child to develop the disease.

Research on the causes of Krabbe disease has led to a better understanding of the role of GALC deficiency in the central nervous system. This deficiency leads to the accumulation of toxic substances called galactosylceramide in the brain and other parts of the body, which damages the myelin sheath that surrounds and protects nerve fibers.

Several genes have been identified to be associated with the development of Krabbe disease, including the GALC gene. Studies on these genes have provided valuable information on the genetic basis of the condition and potential targets for therapeutic interventions.

Due to the rare nature of the disease, there is limited public awareness and resources available for Krabbe disease. However, there are organizations and advocacy groups that offer support, resources, and clinical trial information for patients and their families. Additionally, scientific research and genetic studies continue to shed light on the causes and potential treatments for Krabbe disease.

References:

  • Krabbe disease. (n.d.). Retrieved from OMIM: https://www.omim.org/entry/245200
  • Krabbe Disease. (n.d.). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/krabbe-disease
  • Krabbe disease. (n.d.). Retrieved from NIH Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/6502/krabbe-disease
  • Additional Resources. (n.d.). Retrieved from KrabbeConnect: https://krabbeconnect.org/additional-resources/

Learn more about the gene associated with Krabbe disease

Krabbe disease is a rare genetic disorder that affects the central nervous system. It is caused by a deficiency of the galactosylceramide beta-galactosidase (GALC) enzyme, which is encoded by the GALC gene. This gene provides instructions for making the GALC enzyme, which is responsible for breaking down certain fats in the body.

Individuals with Krabbe disease have mutations in the GALC gene that result in a deficiency or absence of the GALC enzyme. Without the GALC enzyme, specific fats, called galactosylceramides, build up to toxic levels in cells throughout the body, particularly in the brain and nervous system. This progressive accumulation of galactosylceramides leads to the destruction of myelin, a fatty substance that surrounds and protects nerve fibers.

Learn more about the GALC gene at the Online Mendelian Inheritance in Man (OMIM) database. The OMIM entry for the GALC gene provides detailed information about the gene, including its aliases, inheritance pattern, and associated diseases. It also includes links to scientific articles and studies that have investigated the GALC gene and its role in Krabbe disease.

The National Center for Biotechnology Information’s Gene database also provides information about the GALC gene. The database includes the gene’s official symbol, full name, and chromosomal location. It also provides links to additional resources, such as PubMed references, genetic testing laboratories, and patient advocacy organizations.

If you or someone you know has Krabbe disease or is considering genetic testing for this condition, it is important to consult with a healthcare professional or a genetic counselor. They can provide more information about the gene, testing options, and available resources for support and advocacy.

Furthermore, individuals interested in participating in research or clinical trials for Krabbe disease can find information on ClinicalTrials.gov. ClinicalTrials.gov is a registry of clinical trials and research studies conducted worldwide. It provides comprehensive information about ongoing and completed studies, including eligibility criteria and contact information for participating centers.

Overall, understanding the genetic basis of Krabbe disease, particularly the GALC gene, is crucial for advancing research and developing new treatments for this rare condition. By learning more about the gene associated with Krabbe disease, we can improve diagnosis, treatment, and support for individuals and families affected by this devastating disorder.

Inheritance

Krabbe disease is a genetic condition that is inherited in an autosomal recessive manner. This means that a patient must inherit two copies of the defective gene, one from each parent, in order to develop the disease.

See also  KCNJ11 gene

The gene responsible for Krabbe disease is called the GALC gene, which provides instructions for the production of an enzyme called galactosylceramidase (GALC). This enzyme is important for the breakdown of a substance called galactosylceramide.

Without GALC or with reduced GALC activity, galactosylceramide builds up in the central nervous system, leading to the destruction of myelin, the protective covering of nerve fibers. This results in the symptoms and progression of Krabbe disease.

Krabbe disease is a rare genetic condition, with a frequency of approximately 1 in 100,000 births. It is classified into two main forms: early-onset (also known as infantile) and late-onset. The early-onset form is more common and typically manifests within the first six months of life.

In addition to Krabbe disease, mutations in the GALC gene can also cause other diseases, such as late-onset Krabbe disease and adult-onset Krabbe disease. These conditions have a later onset and milder symptoms compared to the early-onset form.

Genetic testing can be done to identify mutations in the GALC gene and confirm a diagnosis of Krabbe disease. This information can also be used for genetic counseling and family planning purposes.

For more information about Krabbe disease and genetic testing, you can refer to the following resources:

These resources provide additional information on the genetic basis of Krabbe disease, ongoing research studies, clinical trials, and support and advocacy organizations.

Other Names for This Condition

  • Galactosylceramide beta-galactosidase (GALC) deficiency
  • Krabbe disease
  • Krabbe leukodystrophy
  • Galactocerebrosidase deficiency
  • Galactosylceramide lipidosis
  • Galactosylceramidase deficiency
  • Krabbe globoid cell leukodystrophy
  • GLD
  • Galactosylceramide beta-galactosidase deficiency
  • Galactocerebrosidosis
  • Krabbe’s disease

Krabbe disease, also known as Galactosylceramide beta-galactosidase (GALC) deficiency or Galactocerebrosidase deficiency, is a rare genetic disease that affects the central nervous system. It is caused by a deficiency in the GALC gene, which leads to the build-up of a lipid called galactosylceramide in the brain and other tissues.

Krabbe disease can be inherited in an autosomal recessive manner, meaning that an affected person must inherit two faulty copies of the GALC gene, one from each parent, in order to develop the condition. The frequency of Krabbe disease varies among different populations, with higher rates reported in certain groups.

There are different forms of Krabbe disease, including the classic early-onset form that occurs in infancy and the late-onset form that can develop later in childhood or even adulthood. The symptoms and progression of the disease can vary widely from person to person.

Testing for Krabbe disease can be done through genetic testing to identify mutations in the GALC gene. Additional clinical tests, such as measuring the activity of the galactocerebrosidase enzyme or analyzing the levels of galactosylceramide in the blood, can also support the diagnosis.

There is currently no cure for Krabbe disease, but research is ongoing to develop new treatment approaches. Resources for patients and families affected by Krabbe disease include advocacy organizations, such as the Krabbe Disease Foundation, and research centers that specialize in genetic diseases. More information about Krabbe disease can be found in scientific articles and references, such as the OMIM catalog and PubMed.

Patients and families affected by Krabbe disease can also find information about ongoing clinical trials and genetic counseling services through resources like ClinicalTrials.gov and national genetic centers.

Additional Information Resources

Here are some additional resources for more information on Krabbe disease:

  • PubMed – A database of scientific articles on various topics, including Krabbe disease. You can search for specific articles about the condition, its causes, and potential treatments.
  • Genetic Testing – Genetic testing can confirm a diagnosis of Krabbe disease and identify the specific gene mutation. This information can help with treatment planning and genetic counseling.
  • Galactosylceramide (GALC) Gene – The GALC gene is associated with Krabbe disease. Mutations in this gene cause a deficiency of the GALC enzyme, which is responsible for breaking down certain fats in the body.
  • ClinicalTrials.gov – This website provides information on clinical trials for Krabbe disease. Participating in a clinical trial can give patients access to new treatments and contribute to the advancement of research.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog is a resource that provides information on genetic diseases, including Krabbe disease. It includes details on the inheritance patterns and associated genes.
  • National Organization for Rare Diseases (NORD) – NORD is a patient advocacy organization dedicated to supporting individuals with rare diseases. They provide resources, support, and information on Krabbe disease and other rare conditions.

It is important to consult with healthcare professionals and genetic specialists to learn more about Krabbe disease and available treatment options. They can provide the most up-to-date and accurate information based on your specific situation.

Genetic Testing Information

Krabbe disease is a rare genetic condition that affects the central nervous system. It is caused by mutations in the GALC gene, which is responsible for producing an enzyme called galactosylceramidase.

Genetic testing is available for Krabbe disease and can be used to confirm a diagnosis or identify carriers of the disease. The test looks for mutations in the GALC gene and can be performed using a blood sample or other tissue samples.

Testing for Krabbe disease can be helpful for individuals with a family history of the condition or for those who are planning to have children. It can provide information about the chances of passing the disease on to future generations.

There are several resources available for genetic testing information and support. The National Institutes of Health (NIH) provides information on genetic testing through the Online Mendelian Inheritance in Man (OMIM) database and other research articles available on PubMed.

Additional information about genetic testing for Krabbe disease can also be found on clinical trial registries such as ClinicalTrials.gov. These registries provide information about ongoing studies and research related to Krabbe disease, including genetic testing studies.

For patients and families affected by Krabbe disease, there are also advocacy and support organizations that can provide information on genetic testing and other resources. These organizations can help connect individuals with genetic counselors and other healthcare professionals who specialize in genetic conditions.

Resources for Genetic Testing Information
Organization Website
Krabbe Disease Support & Advocacy www.krabbesupport.com
National Organization for Rare Disorders (NORD) www.rarediseases.org
Genetic and Rare Diseases Information Center (GARD) rarediseases.info.nih.gov

Genetic testing for Krabbe disease is an important tool for understanding the condition and its inheritance patterns. By learning more about the genes involved in this rare disease, researchers can develop new treatments and improve patient care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS). GARD provides the latest information about rare genetic diseases, including Krabbe disease.

Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder. It is caused by a deficiency of the enzyme galactosylceramidase (GALC), which is necessary for the breakdown of certain fats in the body. Without this enzyme, toxic substances build up in the central nervous system, leading to the destruction of myelin, a fatty substance that protects nerve cells.

The exact frequency of Krabbe disease is unknown, but it is estimated to affect 1 in 100,000 to 200,000 individuals worldwide. The disease can occur in two forms: early-onset and late-onset. Early-onset Krabbe disease is the more severe form and usually presents in the first few months of life. Late-onset Krabbe disease is less common and typically appears in childhood or adulthood.

Krabbe disease is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated GALC gene to develop the condition. When both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy to have an affected child.

Diagnosis of Krabbe disease can be confirmed through genetic testing, which looks for mutations in the GALC gene. Additional tests, such as magnetic resonance imaging (MRI) and nerve conduction studies, may also be performed to assess the extent of the disease.

Currently, there is no cure for Krabbe disease, but there are treatment options available to manage the symptoms and slow disease progression. These may include medications to control seizures, physical therapy, and supportive care. The prognosis for individuals with Krabbe disease varies depending on the age of onset and severity of symptoms.

See also  EYA1 gene

GARD provides a variety of resources for patients and their families affected by Krabbe disease, including information about ongoing research studies and clinical trials on the disease. The GARD website also features support and advocacy groups, as well as links to other organizations that offer additional information and support.

References:

  • GeneReviews: Krabbe Disease
  • OMIM: Krabbe Disease
  • PubMed: Krabbe Disease
  • ClinicalTrials.gov: Krabbe Disease
  • National Organization for Rare Disorders (NORD)

For more information about Krabbe disease, its causes, clinical trials, and support resources, please visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Patients and their families affected by Krabbe disease can benefit from a variety of support and advocacy resources. These resources provide information, support, and assistance to individuals living with the condition.

Genetic and Rare Diseases Information Center (GARD): GARD provides up-to-date information about rare diseases, including Krabbe disease. They offer resources for patients, families, healthcare professionals, and researchers.

National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases and disorders. They provide resources, support, and advocacy for patients and families affected by Krabbe disease.

United Leukodystrophy Foundation (ULF): The ULF supports individuals and families affected by leukodystrophies, including Krabbe disease. They offer educational materials, support networks, and resources for patients and their families.

PubMed: PubMed is a database of scientific articles and research studies. It provides information on the latest research and clinical trials related to Krabbe disease.

OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that provides information on the genetic causes of diseases. It includes information about the genetic deficiency associated with Krabbe disease.

ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies being conducted around the world. Patients and their families can search for ongoing clinical trials related to Krabbe disease to potentially participate in.

Additional Resources:

  • Krabbe Disease Newborn Screening: Information on Krabbe disease newborn screening programs and locations can be found on various state and national websites.
  • Galactosylceramide Beta-Galactosidase (GALC) Testing: Testing for GALC deficiency can be done through specialized laboratories.
  • Rare Diseases Catalog: The Rare Diseases Catalog provides information on a wide range of rare diseases, including Krabbe disease.

These resources can provide valuable information and support to patients and families affected by Krabbe disease. They play a crucial role in advocating for research, raising awareness, and improving the lives of individuals with this rare genetic condition.

Research Studies from ClinicalTrials.gov

  • ClinicalTrials.gov is a resource provided by the National Library of Medicine. It offers information on clinical studies being conducted worldwide.
  • Studies on rare diseases like Krabbe disease can be found on ClinicalTrials.gov, providing additional support and information for patients and researchers.
  • These studies aim to investigate the causes, frequency, inheritance patterns, clinical manifestations, testing methods, and more associated with Krabbe disease.
  • ClinicalTrials.gov provides access to scientific articles, references, and resources on Krabbe disease and other genetic conditions.
  • Research studies listed on ClinicalTrials.gov focus on various aspects of Krabbe disease, such as gene testing, genetic inheritance, late-onset forms, and associated genes and genes.
  • Patients, advocacy centers, and researchers can learn more about Krabbe disease and the latest scientific advancements through the studies listed on this platform.
  • Information on clinical trials, research centers, and genetic testing resources can be found on ClinicalTrials.gov.
  • Collaboration between ClinicalTrials.gov and other resources like OMIM (Online Mendelian Inheritance in Man) and PubMed provides a comprehensive database of information on Krabbe disease and related conditions.
  • The GALC gene and galactosylceramide deficiency are central to the understanding and study of Krabbe disease.
  • Studies from ClinicalTrials.gov and other references can support research on understanding the genetic basis and pathophysiology of Krabbe disease.
  • ClinicalTrialsgov offers a catalog of studies related to Krabbe disease under different names, including Krabbe disease, galactosylceramide deficiency, and genetic leukodystrophies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It offers valuable information about various conditions and their associated genes. One of the diseases listed in OMIM is Krabbe disease, also known as globoid cell leukodystrophy.

Krabbe disease is a rare genetic disorder that affects the central nervous system. It is caused by a deficiency in the enzyme galactosylceramidase (GALC), which leads to the accumulation of toxic substances in the nervous system. The disease can manifest in infancy or later in life, with symptoms ranging from developmental delays to loss of motor skills.

OMIM provides a wealth of information about Krabbe disease, including its clinical features, genetics, and inheritance pattern. It also offers references to scientific articles and studies, allowing readers to learn more about the condition. Additionally, OMIM provides links to other genetic diseases that have been associated with GALC deficiency.

In addition to disease-specific information, OMIM offers resources for patients and advocacy organizations. It provides links to national patient support groups and centers specializing in rare diseases. OMIM also references clinical trials related to Krabbe disease, allowing individuals to explore potential treatment options or participate in research.

For additional information about Krabbe disease or other rare genetic conditions, OMIM is a valuable resource. It serves as a central repository of scientific knowledge, supporting researchers, clinicians, and patients alike in their quest for understanding and managing these diseases.

Scientific Articles on PubMed

The Krabbe disease is a rare genetic condition characterized by the deficiency of the galactosylceramide beta-galactosidase (GALC) enzyme. This deficiency leads to the accumulation of galactosylceramide in various tissues, resulting in the destruction of myelin, which is the protective covering of nerve cells.

Without the GALC enzyme, the body cannot break down galactosylceramide. This causes a range of symptoms, including progressive neurological deterioration, weakness, muscle stiffness, loss of coordination, and vision and hearing loss.

Scientific articles on PubMed provide a wealth of information about Krabbe disease, its causes, clinical presentations, and the latest research advancements. Researchers and healthcare professionals can access these articles to learn more about the disease and its associated genes.

The PubMed database is a centralized catalog of scientific articles from various sources, including research studies, clinical trials, and genetic testing resources. It provides a comprehensive collection of literature on rare genetic diseases like Krabbe disease.

Some of the articles on PubMed discuss the genetic inheritance patterns of Krabbe disease. While most cases are inherited in an autosomal recessive manner, there are rare late-onset forms that can have different patterns of inheritance.

In addition to GALC deficiency, other genes and molecular mechanisms have been associated with Krabbe disease. Further research is needed to understand the interplay between these genes and the GALC enzyme and their role in the development and progression of the disease.

Advocacy groups and patient support organizations also contribute to the scientific literature on Krabbe disease. They provide references to scientific articles, share patient experiences, and raise awareness about the disease.

For more information about Krabbe disease, interested individuals can search PubMed using keywords such as “Krabbe disease,” “galactosylceramide beta-galactosidase deficiency,” or specific gene names associated with the disease.

Researchers and healthcare professionals can also find information about ongoing clinical trials related to Krabbe disease on clinicaltrialsgov, the national database for clinical trials in the United States.

In conclusion, the scientific articles available on PubMed offer valuable resources to learn about Krabbe disease, its genetic causes, clinical presentations, and ongoing research studies. They provide a comprehensive overview of the disease and support further advancements in understanding and treating this rare genetic condition.

References

For additional information on Krabbe Disease and related topics, you may find the following resources helpful:

Scientific articles and studies on Krabbe Disease and related genetic conditions:

  • Luzi P, Rafi MA, Wenger DA. Structure and function of galactosylceramidase. Biochim Biophys Acta. 1996;1304(2):173-178. doi:10.1016/0005-2760(96)00065-3
  • Duffner PK, et al. Treatment of infantile Krabbe disease with umbilical cord blood transplantation: results of the first 5 years of the New York State–approved transplant program. J Pediatr. 2016;172:156-162.e1. doi:10.1016/j.jpeds.2016.01.016
  • Gieselmann V, et al. Metachromatic leukodystrophy: recent research developments. J Child Neurol. 2003;18(7):521-527. doi:10.1177/08830738030180071001
  • Bone marrow transplantation for inherited metabolic diseases: a systematic review. Transplantation. 2019;103(5):860-869. doi:10.1097/TP.0000000000002565
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.