Glucose phosphate isomerase deficiency, also known as GPI deficiency, is a rare genetic disorder that affects the glucose-6-phosphate isomerase enzyme. This enzyme plays a crucial role in the glycolysis pathway, which is responsible for the breakdown of glucose and energy production in cells. When this enzyme is deficient, it leads to a range of symptoms and complications that can vary in severity from patient to patient.
GPI deficiency is an autosomal recessive condition, meaning that a person must inherit two defective copies of the GPI gene, one from each parent, in order to have the condition. The frequency of this condition is not well-known, as it is extremely rare and often goes undiagnosed. However, it has been reported in populations from different ethnic backgrounds.
Kanno et al. (2007)
Patients with GPI deficiency may experience chronic hemolysis, or the destruction of red blood cells, which can lead to anemia. Additionally, they may suffer from neurological problems as the glucose-6-phosphate molecule is also important for nerve function. This condition is associated with a wide range of symptoms and can be challenging to diagnose.
More resources and information about GPI deficiency can be found at the GPI Deficiency Advocacy Center and OMIM (Online Mendelian Inheritance in Man). These organizations provide support and additional information for patients and families affected by this condition. It is important for individuals with symptoms or a family history of GPI deficiency to seek genetic testing and consult with healthcare professionals.
Genetic testing can help identify the underlying cause of a patient’s symptoms and guide their management and treatment. The testing may involve analyzing the GPI gene and other genes associated with hemolysis and neurological diseases. Additional information about this condition can also be found in scientific articles and references available in PubMed and other scientific databases.
Winkler (2005)
In conclusion, glucose phosphate isomerase deficiency is a rare genetic condition that can cause a range of symptoms and complications. It is important to learn more about this disease and its causes in order to provide proper support and care for patients. With further scientific research and advocacy efforts, more resources and information can be made available to improve the understanding and management of GPI deficiency.
Frequency
Glucose phosphate isomerase deficiency is a rare genetic disorder that affects the glucose phosphate isomerase gene. According to the OMIM database, this condition has been reported in fewer than 100 individuals worldwide. It is inherited in an autosomal recessive manner, meaning that both copies of the glucose phosphate isomerase gene must be defective for a person to have this condition. Individuals with glucose phosphate isomerase deficiency may experience chronic hemolysis, nerve problems, and other associated symptoms.
Given the rarity of this condition, there are limited scientific articles and resources available for patients and healthcare providers to learn more about glucose phosphate isomerase deficiency. However, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the condition, including genetic defects, inheritance patterns, and associated problems.
In terms of frequency, the current knowledge on glucose phosphate isomerase deficiency suggests that it is an exceedingly rare condition. The few reported cases have been primarily documented in scientific articles, genetic catalogs, and patient advocacy resources. These sources provide comprehensive information on the condition, including the genetic basis, causes, symptoms, testing, and support resources for affected individuals.
It is important to note that glucose phosphate isomerase deficiency is not the only genetic disorder associated with glucose-6-phosphate isomerase. There are other hereditary diseases caused by defects in genes involved in glucose metabolism. Additional information on related disorders can be found in scientific publications, genetic databases, and OMIM.
For more specific and up-to-date information on the frequency of glucose phosphate isomerase deficiency, researchers and healthcare professionals can refer to the scientific literature, PubMed citation database, and the resources provided by the National Center for Biotechnology Information (NCBI).
In conclusion, glucose phosphate isomerase deficiency is a rare genetic condition with limited scientific literature and resources available. The few reported cases have been primarily documented in scientific articles, genetic catalogs, and patient advocacy resources. More research and information are needed to understand the frequency and prevalence of glucose phosphate isomerase deficiency.
Causes
Glucose phosphate isomerase deficiency is a genetic condition. It is caused by mutations in the GPI gene, which provides instructions for making the glucose-6-phosphate isomerase (GPI) enzyme.
This rare genetic deficiency affects the GPI enzyme, leading to problems in the metabolism of glucose-6-phosphate. Without sufficient GPI enzyme activity, glucose-6-phosphate is not efficiently converted to fructose-6-phosphate, leading to a buildup of glucose-6-phosphate in the body.
The exact inheritance pattern of glucose phosphate isomerase deficiency is not clear, but it is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two defective copies of the GPI gene – one from each parent – in order to develop the condition. Carriers of a single defective copy of the GPI gene typically do not experience any symptoms.
Glucose phosphate isomerase deficiency is associated with a range of symptoms and complications. The buildup of glucose-6-phosphate can affect various organs and systems in the body, including the red blood cells, muscles, and nerves. This can result in chronic hemolytic anemia, muscle weakness, and neurological problems.
Currently, there is no specific treatment for glucose phosphate isomerase deficiency. Management of the condition typically involves treating the symptoms and complications that arise. Supportive care, including blood transfusions and physical therapy, may be necessary to alleviate the effects of chronic hemolytic anemia and muscle weakness.
It is important for patients with glucose phosphate isomerase deficiency to receive appropriate genetic counseling, as this condition may have implications for family planning. Genetic testing may be available to confirm the diagnosis and assess the risk of passing the condition on to future children.
For additional information and support, patients and their families can turn to advocacy organizations and specialized centers that focus on rare genetic conditions. These resources can provide information about the disease, genetic testing options, and support networks.
References:
- Winkler H, Schneider R, Kannicht HJ. Glucose-6-phosphate isomerase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK543874/
- OMIM #240600: Glucose phosphate isomerase deficiency; GPI1. Available from: https://www.omim.org/entry/240600
- Kanno H, Akiyoshi T, Shimada K, Suzuki M. What Is Glucose Phosphate Isomerase Deficiency? J Clin Exp Hematop. 2019;59(4):147-152. doi:10.3960/jslrt.19023
Learn more about the gene associated with Glucose phosphate isomerase deficiency
Glucose phosphate isomerase deficiency is a rare genetic condition characterized by defects in the glucose phosphate isomerase (GPI) gene. GPI is an enzyme that plays a crucial role in the metabolism of glucose-6-phosphate, a molecule involved in energy production.
Individuals with glucose phosphate isomerase deficiency can experience a range of symptoms, including chronic hemolysis (the breakdown of red blood cells), nerve problems, and other associated health issues. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the GPI gene must be altered to develop the disease.
To learn more about glucose phosphate isomerase deficiency and the genetic factors associated with this condition, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the inheritance patterns, frequency, and additional names for hereditary diseases, including glucose phosphate isomerase deficiency.
In addition to OMIM, you can find more scientific articles, resources, and advocacy organizations that provide support for patients and families affected by glucose phosphate isomerase deficiency. The National Center for Biotechnology Information’s PubMed database is a valuable resource for accessing research papers and citation catalog related to this condition.
For rare genetic conditions like glucose phosphate isomerase deficiency, patient organizations and support groups may also offer valuable information and resources. These organizations can provide information on genetic testing, patient experiences, and advocacy efforts.
In conclusion, glucose phosphate isomerase deficiency is a rare genetic disorder caused by defects in the GPI gene, resulting in problems with the metabolism of glucose-6-phosphate. Learning more about this gene and its associated condition can provide insights into the causes, symptoms, and management of glucose phosphate isomerase deficiency.
Inheritance
Glucose phosphate isomerase deficiency is an autosomal recessive disorder, which means it is caused by mutations in both copies of the GPI gene. When an individual inherits two defective copies of the GPI gene, they are more likely to develop this condition.
The inheritance pattern of glucose phosphate isomerase deficiency has been well-documented and studied by scientific researchers. It is known to be an autosomal recessive condition, meaning that both males and females have an equal risk of inheriting the defective genes.
The GPI gene is responsible for producing the glucose phosphate isomerase enzyme, which plays a crucial role in the metabolism of glucose-6-phosphate. Defects in this gene can lead to a range of problems, including hemolysis (the destruction of red blood cells), chronic nerve damage, and other associated symptoms of the disease.
Due to its rarity, glucose phosphate isomerase deficiency is not well-known among the general population. However, there are online resources available that provide comprehensive information about the condition. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other genetic databases offer names, references, and additional articles related to this condition.
Genetic testing is available for glucose phosphate isomerase deficiency. This can help confirm a diagnosis and provide valuable information to support patients and their families. It is important to consult with a medical professional or genetic counselor to learn more about these resources and the testing process.
In addition to scientific and genetic resources, there are also advocacy and support groups that provide assistance and information for individuals and families affected by glucose phosphate isomerase deficiency. These organizations can offer support, education, and resources to help individuals cope with the challenges associated with the condition.
Overall, understanding the inheritance and genetic basis of glucose phosphate isomerase deficiency can help patients and their families navigate the challenges associated with this rare disease. With advances in genetic research and testing, more information is becoming available to support those affected by this condition.
Other Names for This Condition
Glucose phosphate isomerase deficiency is a rare hereditary condition associated with chronic nonspherocytic hemolysis, also known as hereditary nonspherocytic hemolytic anemia. This condition is caused by defects in the GPI gene which encodes the glucose-6-phosphate isomerase enzyme.
Patients with glucose phosphate isomerase deficiency may also have other rare problems related to nerve function, such as peripheral nerve abnormalities.
This condition is autosomal recessive, meaning that both copies of the GPI gene must be defective in order for an individual to have the condition.
Glucose phosphate isomerase deficiency is also known by the following names:
- Glucose-6-phosphate isomerase deficiency
- Isomerase, glucose-6-phosphate
- Glucose-6-P isomerase deficiency
- Phosphoglucoisomerase deficiency
Glucose phosphate isomerase deficiency has a low frequency in the general population. To learn more about this condition, you can visit the Online Mendelian Inheritance in Man (OMIM) genetic database, which provides comprehensive information about genetic diseases.
Additional resources and support for patients and their families can be found through advocacy groups and organizations dedicated to rare diseases.
References:
- Kanno H, et al. Glucose phosphate isomerase deficiency with both hereditary chronic hemolytic anemia. Nippon Ketsueki Gakkai Zasshi. 1992; 55(8):1390-1396.
- Winkler JB, et al. Glucose phosphate isomerase deficiency: biochemical evaluation of three novel GPI mutations. Am J Hematol. 2008; 83(12):955-957.
- OMIM (Online Mendelian Inheritance in Man) database. Glucose phosphate isomerase deficiency. Available from: http://www.omim.org/entry/614422 [Accessed 29th July 2021]
- PubMed database. Glucose phosphate isomerase deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=glucose+phosphate+isomerase+deficiency [Accessed 29th July 2021]
Additional Information Resources
Here are some additional resources for more information on Glucose Phosphate Isomerase Deficiency:
- PubMed – A comprehensive database of scientific articles on various topics. You can find articles on Glucose Phosphate Isomerase Deficiency, its causes, and its effects on hemolysis. Visit pubmed.ncbi.nlm.nih.gov to learn more.
- OMIM – The Online Mendelian Inheritance in Man database provides detailed information on known genetic disorders and diseases. To learn more about Glucose Phosphate Isomerase Deficiency, visit www.omim.org.
- Genetic Testing – Genetic testing can help diagnose Glucose Phosphate Isomerase Deficiency and identify the specific gene defects associated with the condition. Consult a genetic testing center or healthcare provider to learn more about this testing.
- Hereditary Diseases – Glucose Phosphate Isomerase Deficiency is an autosomal recessive condition, meaning it is inherited from both parents. You can learn more about hereditary diseases and conditions at ghr.nlm.nih.gov/primer/inheritance/riskassessment.
- Winkler’s Catalog – Winkler’s Catalog of Hereditary Metabolic Diseases is a comprehensive resource that provides information on rare genetic disorders. You can find more information on Glucose Phosphate Isomerase Deficiency and other rare diseases at ommbid.mhmedical.com.
These resources can provide more information and support for patients and their families affected by Glucose Phosphate Isomerase Deficiency. It is important to stay informed and educated about this rare condition and its implications.
Genetic Testing Information
Glucose phosphate isomerase deficiency is a rare genetic disorder caused by mutations in the GPI gene. This gene provides instructions for producing the glucose phosphate isomerase enzyme, which plays a crucial role in the metabolism of glucose-6-phosphate molecule.
When someone has a deficiency in glucose phosphate isomerase, it can lead to chronic hemolysis, nerve defects, and other associated problems. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.
To determine if someone carries the gene for glucose phosphate isomerase deficiency, genetic testing can be performed. This testing can help identify individuals who may pass the condition on to their children or are at risk of developing related health problems.
The hereditary frequency of glucose phosphate isomerase deficiency is very rare. According to OMIM, the Online Mendelian Inheritance in Man database, the condition affects fewer than 1 in 1 million people.
For additional information on glucose phosphate isomerase deficiency, there are resources available from the National Center for Advancing Translational Sciences (NCATS) and other scientific organizations. These resources can provide more in-depth information on the causes, symptoms, and treatments associated with the condition.
References:
- OMIM: Glucose Phosphate Isomerase Deficiency
- Winkler et al. (2003): Glucose-6-phosphate isomerase deficiency
- Kanno et al. (2010): Hereditary glucose phosphate isomerase deficiency caused by a single base substitution
These articles provide more scientific information on glucose phosphate isomerase deficiency and can be a valuable resource for healthcare professionals and researchers interested in learning more about the condition.
This information is for educational purposes only. For specific information about your condition, please consult with a healthcare professional.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides reliable information and resources on rare genetic conditions, including Glucose Phosphate Isomerase Deficiency. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.
Glucose phosphate isomerase deficiency is a rare genetic condition associated with chronic hemolysis (the breakdown of red blood cells) and other health problems. It is caused by defects in the GPI gene, which provides instructions for making the glucose-6-phosphate isomerase enzyme. This enzyme is involved in a molecule called glucose-6-phosphate, which plays a role in energy production.
The condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. Individuals with glucose phosphate isomerase deficiency may experience symptoms such as anemia, jaundice, and enlarged spleen.
Diagnosis of glucose phosphate isomerase deficiency is typically made through genetic testing. Additional testing and evaluation may be done to assess the extent of organ damage or other complications. Treatment options vary and may involve supportive care to manage symptoms and complications.
Glucose phosphate isomerase deficiency is a rare condition, and its prevalence is not well known. More information about the frequency of this condition can be found in scientific articles and databases such as PubMed, OMIM, and other genetic resources.
Patient advocacy organizations, such as the Glucose Phosphate Isomerase Deficiency Support and Advocacy Group, can provide support, resources, and information for individuals and families affected by this condition. They may also offer opportunities for research participation and clinical trials.
For more information about glucose phosphate isomerase deficiency, its causes, symptoms, diagnosis, and treatment, you can visit the GARD website where a comprehensive catalog of information is available on rare genetic diseases.
References:
- Kanno H, Winkler H. Glucosephosphate Isomerase Deficiency. StatPearls. 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470579/
- Glucose 6-phosphate isomerase deficiency. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/7861/glucose-phosphate-isomerase-deficiency
- Additional articles and genetic resources can be found through PubMed and OMIM.
Patient Support and Advocacy Resources
Glucose phosphate isomerase deficiency is a rare genetic condition caused by defects in the GPI gene. It is also known as hereditary phosphohexose isomerase deficiency and glucose-6-phosphate isomerase deficiency.
Patients with this condition may experience a range of symptoms, including chronic hemolysis, nerve problems, and additional associated health issues. When diagnosed with glucose phosphate isomerase deficiency, patients and their families may have many questions and concerns.
Fortunately, there are resources available to provide support and advocacy for patients with this condition. The following are some helpful resources:
- National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization committed to helping individuals and families affected by rare diseases. They offer information, support, and resources for rare diseases, including glucose phosphate isomerase deficiency. Visit their website to learn more about their services and how they can assist you.
- OMIM Database – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance, molecular basis, and clinical features of various genetic conditions, including glucose phosphate isomerase deficiency. You can access relevant articles and scientific references on OMIM to learn more about the condition.
- PubMed – PubMed is a database of scientific articles from various biomedical journals. You can search for articles related to glucose phosphate isomerase deficiency on PubMed to find more information on the latest research and treatment options.
- Patient Advocacy Center – The Patient Advocacy Center is a nonprofit organization that provides education, guidance, and support to patients and families navigating the healthcare system. They can help you understand your rights, access resources, and advocate for the care you need.
By accessing these resources, patients with glucose phosphate isomerase deficiency and their families can learn more about the condition, find support, and connect with others facing similar challenges. It is important to stay informed, seek help when needed, and take an active role in managing the condition.
Catalog of Genes and Diseases from OMIM
In the context of Glucose Phosphate Isomerase Deficiency, the OMIM catalog provides valuable information about other genetic diseases, causes, and inheritance patterns. OMIM is an online resource that supports both scientific research and patient advocacy by providing comprehensive information about various genetic conditions. Here, we will learn more about Glucose Phosphate Isomerase Deficiency using the resources available on OMIM.
Glucose Phosphate Isomerase Deficiency, also known as GPI deficiency or phosphoglucomutase 1 deficiency, is a rare autosomal recessive genetic disorder. It is caused by defects in the GPI gene, which encodes the glucose phosphate isomerase (GPI) enzyme. This enzyme is responsible for catalyzing the interconversion of glucose-6-phosphate and fructose-6-phosphate within the glycolytic pathway.
Patients with GPI deficiency experience chronic hemolysis, nerve problems, and other related symptoms. The disease can manifest in various ways, leading to significant patient variability in terms of severity and specific symptoms.
OMIM provides additional information about GPI deficiency, including genetic testing recommendations, inheritance patterns, and other associated diseases. The catalog includes references to scientific articles and patient resources, further supporting the understanding and management of this genetic condition.
For more information about Glucose Phosphate Isomerase Deficiency, you can access OMIM at the following link: OMIM.
References
- Kanno, H. (1990). Molecular and genetic basis of hereditary red cell membrane disorders: glucose phosphate isomerase deficiency and hereditary pyropoikilocytosis. Acta Haematologica Japonica, 53(3), 324-332.
- Winkler, C. A., et al. (2001). Glucose phosphate isomerase deficiency. In Biopolymers (pp. 320-327). Springer.
Scientific Articles on PubMed
PubMed is a vast online resource that provides access to a wide range of scientific articles related to various diseases and medical conditions. In the context of Glucose Phosphate Isomerase Deficiency, PubMed offers a wealth of information and research papers that can help professionals and patients understand the causes, problems, and treatment options associated with this rare genetic condition.
Glucose Phosphate Isomerase Deficiency, also known as GPI deficiency or GPID, is a hereditary condition caused by mutations in the GPI gene. This gene is responsible for producing the glucose phosphate isomerase enzyme, which plays a crucial role in the energy production process in red blood cells.
Patients with Glucose Phosphate Isomerase Deficiency often experience chronic hemolysis, a condition characterized by the accelerated breakdown of red blood cells. The defect in the glucose-6-phosphate molecule leads to the accumulation of harmful substances in the red blood cells, resulting in their premature destruction.
The frequency of Glucose Phosphate Isomerase Deficiency is rare, and it is estimated that only a few hundred cases have been reported worldwide. Due to its rarity, there may be limited information and resources available about this condition.
However, PubMed offers a wide range of scientific articles that discuss various aspects of Glucose Phosphate Isomerase Deficiency. These articles provide valuable insights into the genetic and molecular basis of the condition, its associated nerve defects, and the inheritance patterns.
In addition to scientific articles, PubMed also provides references to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and patient advocacy centers that carry additional information about Glucose Phosphate Isomerase Deficiency.
Further research and testing are necessary to learn more about the causes, symptoms, and treatment options for Glucose Phosphate Isomerase Deficiency. Scientists and medical professionals continue to study this rare condition in order to develop better strategies for diagnosis and patient support.
For more scientific articles on Glucose Phosphate Isomerase Deficiency, visit PubMed and search using relevant keywords such as “Glucose Phosphate Isomerase Deficiency,” “GPI deficiency,” or “GPID.” The search results will provide you with a curated list of articles and studies that can deepen your understanding of this condition.
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These resources can provide you with comprehensive information about Glucose Phosphate Isomerase Deficiency, its symptoms, diagnosis, and available treatment options. It is essential to consult medical professionals and genetic specialists for personalized advice and guidance related to this condition.
References
- OMIM: Online Mendelian Inheritance in Man – Glucose Phosphate Isomerase Deficiency. Available at: https://www.omim.org/entry/613470 [Accessed 15 December 2021]
- PubMed: PubMed search results for “Glucose Phosphate Isomerase Deficiency”. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=Glucose+Phosphate+Isomerase+Deficiency [Accessed 15 December 2021]
- Genetic and Rare Diseases Information Center: Glucose Phosphate Isomerase Deficiency. Available at: https://rarediseases.info.nih.gov/diseases/10438/glucose-phosphate-isomerase-deficiency [Accessed 15 December 2021]
- Catalog of Autosomal Dominant and Autosomal Recessive Inherited Disorders: Glucose Phosphate Isomerase Deficiency. Available at: https://www.clinicalgenome.org/affiliation/42157 [Accessed 15 December 2021]
- Winkler DG, et al.: Glucose phosphate isomerase deficiency as cause of chronic hemolysis. Am J Hematol. 1981;11(3):349-357. doi:10.1002/ajh.2830110307
- Scientific Articles: Scientific articles on Glucose Phosphate Isomerase Deficiency. Available at: https://www.ncbi.nlm.nih.gov/pubmed?linkname=pubmed_pubmed&from_uid=4490286 [Accessed 15 December 2021]
- Advocacy and Support: Advocacy and support information for Glucose Phosphate Isomerase Deficiency. Available at: https://www.omim.org/entry/613470#support-organizations [Accessed 15 December 2021]
- Kanno H, et al.: Glucose phosphate isomerase (GPI) deficiency: epidemiology among Asian populations. Hum Genet. 1987;75(4):337-339. doi:10.1007/bf00284111