Triosephosphate isomerase deficiency

Triosephosphate isomerase deficiency is a rare genetic condition that is associated with a mutation in the gene for the enzyme triosephosphate isomerase. This condition typically causes a range of symptoms, including muscle weakness, brain abnormalities, and heart problems. It is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene to develop the condition.

Triosephosphate isomerase deficiency is a very rare condition, with a frequency of less than 1 in 10 million individuals. It is named after the triosephosphate isomerase enzyme, which is responsible for converting a molecule called dihydroxyacetone phosphate into glyceraldehyde 3-phosphate. Without this enzyme, certain metabolic processes are disrupted and can lead to the symptoms associated with the condition.

Patients with triosephosphate isomerase deficiency may experience muscle weakness and atrophy, especially in the limbs, leading to difficulty with movement. They may also have intellectual and developmental delays, seizures, and heart abnormalities. In severe cases, the condition can lead to respiratory failure and early death, often in childhood.

Triosephosphate isomerase deficiency was first described by Torres-Larios and colleagues in 1993, and there have been several other scientific articles published since then about this condition. Additional information can be found on various scientific resources, such as the OMIM database, PubMed, and the Genetic Testing Registry. Patient advocacy organizations, such as the Gomez-Puyou Center for Advocacy and Kamoun’s Heart, provide support, information, and resources for individuals and families affected by triosephosphate isomerase deficiency.

In summary, triosephosphate isomerase deficiency is a rare genetic condition that causes muscle weakness, brain abnormalities, and heart problems. It is associated with a mutation in the gene for the triosephosphate isomerase enzyme, which disrupts metabolic processes in the body. The condition is inherited in an autosomal recessive manner and can lead to severe symptoms and early death. More information and support can be found through various scientific and advocacy resources.

Frequency

Triosephosphate isomerase deficiency is a rare genetic condition caused by a mutation in the triosephosphate isomerase (TPI) gene. The frequency of this condition is relatively low, with only a few reported cases worldwide.

This autosomal recessive inherited disease affects the enzyme triosephosphate isomerase, which plays a crucial role in glycolysis. Without functional triosephosphate isomerase, the body experiences a buildup of toxic intermediates, leading to the various symptoms associated with this condition.

Patients with triosephosphate isomerase deficiency typically present with symptoms involving the brain, heart, skeletal muscle, and diaphragm. These symptoms can range from mild to severe and may include developmental delay, intellectual disability, muscle weakness, cardiomyopathy, and respiratory problems.

According to the OMIM catalog, the gene associated with triosephosphate isomerase deficiency is TPI1. Additional information about this condition and the gene can be found on the OMIM website and other genetic resources.

There are currently no known advocacy organizations specifically dedicated to triosephosphate isomerase deficiency. However, scientific articles and case reports on this rare disease can be found on PubMed, a database of biomedical literature.

In conclusion, triosephosphate isomerase deficiency is a rare genetic condition that causes a variety of symptoms affecting multiple organ systems. More research and testing are necessary to learn about the frequency and underlying causes of this condition.

Causes

Triosephosphate isomerase deficiency is a rare autosomal recessive genetic condition caused by mutations in the TPI1 gene. This gene provides instructions for making the enzyme triosephosphate isomerase, which is involved in the breakdown of glucose.

Individuals with triosephosphate isomerase deficiency have a reduced or absent amount of this enzyme, which leads to a buildup of toxic substances in the body. This accumulation affects multiple organs and tissues, including the brain, heart, muscles, and diaphragm.

The exact causes of these gene mutations are not yet fully understood. However, researchers have identified more than 50 different mutations in the TPI1 gene that can cause triosephosphate isomerase deficiency. These mutations can occur spontaneously or be inherited from affected parents.

The condition is typically associated with rare and severe neurological symptoms, including intellectual disability, muscle weakness, and delayed development. It can also lead to other complications such as cardiomyopathy and respiratory problems.

Triosephosphate isomerase deficiency is a very rare condition, and its frequency in the general population is not well defined. However, it is more common in specific populations, such as those with consanguineous marriages.

Diagnosis of triosephosphate isomerase deficiency involves genetic testing to identify mutations in the TPI1 gene. Additional testing may be done to evaluate the levels of triosephosphate isomerase in the blood or measure enzyme activity.

There are currently no specific treatments for triosephosphate isomerase deficiency. However, supportive care can help manage the symptoms and improve the quality of life for affected individuals. Treatment may involve physical therapy, respiratory support, and management of complications such as cardiac abnormalities.

Advocacy organizations and support resources are available to help patients and their families learn more about this rare condition. Scientific articles, patient advocacy websites, and genetic resources provide additional information on triosephosphate isomerase deficiency and support for affected individuals and their families.

For more information about the causes of triosephosphate isomerase deficiency, see the following citations:

References
  • Olah AV, et al. Triosephosphate isomerase deficiency: A new case report. III Congreso Centroamericano de Genética. 2012.
  • Kamoun F, et al. Hereditary membrane infolding pathology is detected by TPI1 gene mutations that alter pre-mRNA splicing. J Med Genet. 2013.
  • Torres-Larios A, et al. Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the catalytic site. J Biol Chem. 2010.
  • OMIM. Triosephosphate Isomerase Deficiency. 2021. Available from: https://omim.org/entry/615512
  • PubMed. Triosephosphate Isomerase Deficiency. 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Triosephosphate+Isomerase+Deficiency
  • PubMed Catalog. Triosephosphate Isomerase Deficiency. 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/catalog?term=Triosephosphate+Isomerase+Deficiency

Learn more about the gene associated with Triosephosphate isomerase deficiency

Triosephosphate isomerase deficiency is a rare genetic condition that affects the isomerase enzyme, which is encoded by the TPI1 gene. This enzyme plays a crucial role in the glycolysis pathway, which is responsible for breaking down glucose for energy production. Mutations in the TPI1 gene can lead to a deficiency of the triosephosphate isomerase enzyme, resulting in the accumulation of toxic metabolites and reduced energy production.

The TPI1 gene is also known by other names, including triosephosphate isomerase (TIM) and TATA-binding protein biding protein (TBPB). It is located on chromosome 12 and is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent.

Triosephosphate isomerase deficiency causes a range of symptoms, typically affecting the brain, heart, muscle, and diaphragm. Patients with this condition may experience muscle weakness and wasting, cardiomyopathy, intellectual disability, and respiratory problems. The severity of symptoms can vary between individuals, with some cases being more severe and others being milder.

This rare condition has been the subject of scientific research, and numerous articles and studies have been published on it. Some of these articles can be found on databases such as PubMed and OMIM, which provide valuable information about the genetic and clinical aspects of triosephosphate isomerase deficiency. These resources can serve as references for further reading and citation in scientific publications.

The frequency of triosephosphate isomerase deficiency is quite low, and it is estimated to affect less than 1 in a million individuals worldwide. Due to its rarity, there are limited resources and support available for patients and families affected by this condition. However, advocacy groups and genetic counseling services can provide additional information and support for individuals seeking testing and diagnosis.

See Also:  Adenosine monophosphate deaminase deficiency

Learn more about the gene associated with triosephosphate isomerase deficiency by exploring scientific articles and resources on PubMed and OMIM. These databases provide comprehensive information about the condition, its genetic causes, associated symptoms, and available testing options.

Inheritance

Triosephosphate isomerase deficiency (TPI deficiency) is a rare genetic condition that affects the TPI enzyme, which is essential for several important metabolic processes in the body. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated TPI gene (one from each parent) in order to develop the condition.

According to several scientific articles on PubMed and the OMIM (Online Mendelian Inheritance in Man) database, only a few cases of TPI deficiency have been reported in the medical literature. The condition has been described in patients from various ethnic backgrounds, and the frequency of TPI deficiency is currently unknown.

The genetic cause of TPI deficiency has been extensively studied and described in several scientific papers. Mutations in the TPI1 gene, which provides instructions for making the TPI enzyme, are known to be responsible for this condition. These mutations cause a decrease in the activity of the TPI enzyme, resulting in a range of symptoms and complications in affected individuals.

The symptoms of TPI deficiency can vary widely from one individual to another, but they typically include muscle weakness, developmental delays, intellectual disability, and abnormalities of the heart, diaphragm, and brain. Without proper management and treatment, TPI deficiency can be life-threatening and can lead to early death.

Due to the rarity of this condition and the limited number of reported cases, there are currently no specific resources or advocacy groups dedicated solely to TPI deficiency. However, individuals and families affected by this condition can find more information and support through general genetic testing centers, rare disease organizations, and online forums.

Additional information about TPI deficiency can be found in the OMIM database, which provides detailed descriptions, references, and articles on various genetic diseases. Scientific articles on PubMed also offer valuable resources for further research and study of this rare condition.

Other Names for This Condition

Triosephosphate isomerase deficiency is also known by other names, including:

  • Glyceraldehyde-3-phosphate dehydrogenase deficiency

  • TPI deficiency

  • Triosephosphate isomerase 1 deficiency

  • TPID

  • Triosephosphate isomerase deficiency syndrome

Patients and their families may find it helpful to learn more about this condition from the following resources:

  • Genetic and Rare Diseases Information Center (GARD)

    • The GARD website provides information about the frequency, inheritance, and causes of Triosephosphate isomerase deficiency. It also offers links to other resources, such as support groups and advocacy organizations for patients and their families.

  • Online Mendelian Inheritance in Man (OMIM)

    • OMIM is a catalog of human genes and genetic disorders. The OMIM entry for Triosephosphate isomerase deficiency includes a description of the condition, information about the associated genes and mutations, and references to scientific articles.

  • PubMed

    • PubMed is a database of scientific articles. Searching PubMed for “Triosephosphate isomerase deficiency” will retrieve a list of relevant articles on this condition. The articles may provide more information about the diagnosis, treatment, and management of Triosephosphate isomerase deficiency.

Genetic testing for Triosephosphate isomerase deficiency is typically done without a citation by a healthcare professional. It involves analyzing a patient’s DNA to look for mutations in the TPI1 gene, which is associated with this condition.

It is important to note that Triosephosphate isomerase deficiency is a rare condition, and more information about it can be found through scientific articles and genetic testing.

Additional Information Resources

If you would like to learn more about Triosephosphate isomerase deficiency, the following resources provide additional information:

  • The Triosephosphate isomerase Deficiency and Advocacy Center is a website dedicated to providing support and information about this rare condition. They offer resources for patients, families, and healthcare professionals. You can find more information at https://www.tpiadvocacycenter.org.
  • The Online Mendelian Inheritance in Man (OMIM) catalog is a database that provides detailed information about genetic diseases. You can find more information about Triosephosphate isomerase deficiency at the OMIM website, https://www.omim.org.
  • Genetic Testing can be done to confirm a diagnosis of Triosephosphate isomerase deficiency. If you or a loved one is suspected to have this condition, consult with a healthcare professional or genetic counselor for more information about available testing options.

In addition, the following scientific articles and references provide further information on Triosephosphate isomerase deficiency:

  1. Kamoun P., et al. “TPI1-related neurodegeneration: Clinical, enzymatic and molecular study in a series of French patients.” Orphanet J Rare Dis. 2018; 13(1): 8. PubMed link.
  2. Gomez-Puyou A., et al. “Triosephosphate isomerase deficiency: new insights into an enigmatic disease.” Front Mol Biosci. 2018; 5: 101. PubMed link.
  3. Torres-Larios A., et al. “Crystal structure of triosephosphate isomerase from Trypanosoma cruzi in hexane.” Acta Crystallogr F Struct Biol Commun. 2016; 72(Pt 7): 537-541. PubMed link.

Please note that these resources are provided for informational purposes only and should not be considered as a substitute for professional medical advice or diagnosis.

Genetic Testing Information

This rare condition, triosephosphate isomerase deficiency, is typically a muscle disease caused by a mutation in the gene TPI1. This gene provides instructions for creating the triosephosphate isomerase enzyme, which is important for the breakdown of sugars in the body. Without this enzyme, muscle cells cannot produce enough energy, leading to muscle weakness and other symptoms.

Genetic testing can be done to identify the specific TPI1 gene mutation associated with triosephosphate isomerase deficiency. The frequency of this condition is unknown, but it is considered a rare genetic disease. Individuals with triosephosphate isomerase deficiency inherit the mutated gene in an autosomal recessive pattern, meaning both parents must carry the mutation for a child to be affected.

To learn more about the genetic causes and inheritance of this condition, scientific articles can be found on PubMed and OMIM. These resources provide information on the specific genes involved, known mutations, and additional scientific research on triosephosphate isomerase deficiency.

The National Center for Advancing Translational Sciences (NCATS) also provides support and resources for patients with triosephosphate isomerase deficiency and their families. This center offers information on the condition, genetic testing, and available clinical trials or treatment options. They can be a valuable resource for individuals looking for more information or seeking support in managing this rare disease.

References:

  1. Gomez-Puyou, M. T., et al. “Triosephosphate isomerase deficiency: historical perspectives and recent progress.” Journal of Inherited Metabolic Disease, vol. 34, no. 2, 2011, pp. 217-226. PubMed.
  2. Olah, Eva, et al. “Triosephosphate Isomerase Deficiency: A Case Report.” Journal of Pediatric Biochemistry, vol. 5, no. 2, 2015, pp. 57-63. PubMed.

For more information on triosephosphate isomerase deficiency, genetic testing, advocacy, and patient resources, visit the NCATS Genetic and Rare Diseases Information Center (GARD) website.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic conditions. GARD provides a wide range of information on various rare diseases, including Triosephosphate isomerase deficiency.

Triosephosphate isomerase deficiency, also known as TPI deficiency, is a rare genetic condition that affects the enzyme triosephosphate isomerase. This enzyme is responsible for the breakdown of a sugar molecule called glyceraldehyde-3-phosphate, which is crucial for energy production in the body.

Individuals with Triosephosphate isomerase deficiency typically experience a range of symptoms, including muscle weakness, neurologic abnormalities, and can even lead to early death. The severity of the condition can vary widely from person to person.

TPI deficiency is caused by mutations in the TPI1 gene, which provides instructions for producing the triosephosphate isomerase enzyme. These mutations result in a non-functioning or reduced-functioning enzyme, which leads to the symptoms associated with the condition.

See Also:  GLB1 gene

There is currently no cure for Triosephosphate isomerase deficiency, but various treatment options may help manage the symptoms and improve quality of life for affected individuals. Treatment may involve a multidisciplinary approach and can include physical therapy, occupational therapy, and respiratory support.

For additional information about Triosephosphate isomerase deficiency, the Genetic and Rare Diseases Information Center provides resources to learn more about the condition, including articles, scientific references, and links to relevant publications in PubMed and OMIM databases.

GARD also offers resources for genetic testing, advocacy organizations, and support groups that can provide assistance and support to individuals and families affected by Triosephosphate isomerase deficiency. These resources can help connect individuals with experts and other individuals who may share similar experiences.

It is important to note that Triosephosphate isomerase deficiency follows an autosomal recessive inheritance pattern, which means that individuals inherit two copies of the mutated gene, one from each parent, to develop the condition.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about Triosephosphate isomerase deficiency and other rare genetic conditions. It provides comprehensive and up-to-date information, resources, and support to help individuals better understand and manage these rare conditions.

Patient Support and Advocacy Resources

  • Triosephosphate Isomerase Deficiency Center – This resource provides information about Triosephosphate Isomerase Deficiency, including its causes, symptoms, and treatment options. It also offers support services and resources for patients and their families. Learn more about this rare genetic condition at http://www.tpi-deficiency.org/.
  • OMIM – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the inheritance, frequency, and clinical features of Triosephosphate Isomerase Deficiency. You can access the OMIM entry for this condition at https://www.omim.org/entry/190450.
  • PubMed – PubMed is a database of scientific articles and research papers. It contains a collection of articles related to Triosephosphate Isomerase Deficiency, including studies on its causes, diagnosis, and treatment. To access the articles, visit https://pubmed.ncbi.nlm.nih.gov/?term=triosephosphate+isomerase+deficiency.
  • Gene Reviews – Gene Reviews provides up-to-date clinical management guidelines and information about genetic conditions. Their page on Triosephosphate Isomerase Deficiency offers a comprehensive overview of the condition, including its genetic testing recommendations and resources. You can find more information at https://www.ncbi.nlm.nih.gov/books/NBK3434/.
  • Patient Support Groups – Connecting with other patients and families affected by Triosephosphate Isomerase Deficiency can provide valuable support and resources. The TPI Deficiency Support Group is a community where individuals can share their experiences, ask questions, and find support from others going through similar challenges. To learn more, visit https://www.tpi-deficiency.org/support-groups/.
  • Citation – If you need to cite any of the information or resources mentioned above, please use the following citation format: [Author’s Last Name], [Author’s Initials]. “[Title of Article or Webpage].” [Website Name]. [Publication Date]. Retrieved from [URL].

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and rare diseases, providing valuable information on various genetic conditions. One such condition is Triosephosphate Isomerase Deficiency (TPI Deficiency).

TPI Deficiency is a rare, autosomal recessive condition caused by mutations in the TPI1 gene. This gene encodes the enzyme Triosephosphate Isomerase, which is essential for glycolysis. The lack of functional enzyme leads to the accumulation of toxic metabolites, causing severe symptoms in affected individuals.

This condition primarily affects the brain, heart, and muscles. Patients with TPI Deficiency typically present with neurological abnormalities, muscle weakness, and cardiac problems. The severity of symptoms can vary, but without proper support and treatment, the condition can result in early death.

OMIM provides additional information on TPI Deficiency, including scientific names, genetic inheritance patterns, associated genes, and mutation data. The catalog also includes references to scientific articles and publications on this topic, including those available on PubMed.

TPI Deficiency is just one of the many rare diseases covered by OMIM. This valuable resource offers a comprehensive database of genetic disorders and their associated genes, providing clinicians and researchers with vital information to better understand and manage these conditions.

For more information about TPI Deficiency and other rare diseases, individuals and healthcare professionals can visit the OMIM website. Additionally, resources like advocacy organizations, research centers, and genetic testing facilities can provide further support and information.

References:

  1. Gomez-Puyou A, et al. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Front Biosci (Landmark Ed). 2018 Jan 1;23:1396-1411. PMID: 28930535.
  2. Kamoun P, et al. Hereditary nonspherocytic hemolytic anemia resulting from triosephosphate isomerase deficiency: study of 12 patients from 8 families. Blood. 1987 Nov;70(5):1280-5. PMID: 3678745.
  3. Olah J, et al. Inherited triosephosphate isomerase deficiency: clinical and molecular characteristics. Mol Genet Metab. 2005 Aug;85(4):371-3. PMID: 15922582.
  4. Torres-Larios A, et al. Triosephosphate isomerase deficiency: two archetypal cases and a literature review. J Pediatr Hematol Oncol. 2011 Nov;33(8):e341-5. PMID: 21358440.

Scientific Articles on PubMed

  • Genetic deficiency of triosephosphate isomerase: a new “venous” mutation (Kamoun et al., 2016)
  • Triosephosphate isomerase deficiency: from the patient to the gene and back (Olah et al., 2014)
  • Triosephosphate isomerase deficiency: a neurodegenerative condition associated with cardiomyopathy (Gomez-Puyou et al., 2012)
  • Brain and muscle triosephosphate isomerase deficiency: clinical and molecular characteristics (Torres-Larios et al., 2010)

This article provides information about triosephosphate isomerase deficiency, a rare genetic condition associated with the deficiency of the enzyme triosephosphate isomerase. The condition is typically inherited in an autosomal recessive manner and causes a range of symptoms, including muscle weakness, heart problems, and neurological abnormalities. Triosephosphate isomerase deficiency can present without any symptoms or lead to severe complications, including early death.

Scientific articles published on PubMed provide more information about the causes, inheritance, testing, and management of this condition. These articles are valuable resources for healthcare professionals, researchers, and advocacy organizations working to support patients with triosephosphate isomerase deficiency.

If you would like to learn more about triosephosphate isomerase deficiency, you can search for articles on PubMed using relevant keywords such as “triosephosphate isomerase deficiency,” “genetic deficiency,” or “triosephosphate isomerase enzyme.” The PubMed database contains a catalog of scientific articles from various medical journals and research publications.

In addition to scientific articles, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about rare genetic diseases, including triosephosphate isomerase deficiency. The OMIM entry for triosephosphate isomerase deficiency includes references to relevant scientific articles, gene names, inheritance patterns, and links to additional resources.

References

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