Tetrahydrobiopterin (BH4) deficiency is a rare genetic condition that affects the metabolism of a compound called tetrahydrobiopterin. This condition is caused by mutations in genes involved in the production, recycling, or function of BH4. Mutations in any of these genes can lead to a decrease in BH4 levels, impairing its function and causing a range of symptoms.

There are several types of BH4 deficiency, each associated with different genes and inheritance patterns. The most common form is caused by mutations in the gene encoding the enzyme GTP cyclohydrolase. Other types are associated with mutations in genes involved in the synthesis or recycling of BH4.

Patients with BH4 deficiency may experience a variety of symptoms, including neurological problems, such as movement disorders, cognitive impairment, and seizures. The severity and progression of symptoms can vary widely from patient to patient. BH4 deficiency can have a significant impact on a patient’s quality of life, and long-term management of the condition is important.

Diagnosis of BH4 deficiency is based on clinical symptoms, biochemical testing, and genetic testing. Additional testing may be necessary to rule out other diseases with similar symptoms. Patients can also be evaluated for potential BH4 deficiency through a urine test that measures the levels of dihydropteridine, a compound produced during BH4 metabolism.

Treatment options for BH4 deficiency include the use of BH4 supplementation and dietary modifications. BH4 supplementation can help replace the deficient levels of BH4 and improve symptoms. However, the response to treatment can vary, and long-term monitoring and adjustment of treatment may be necessary.

There are resources available to learn more about BH4 deficiency, including scientific articles, genetic databases, and advocacy groups. Families and individuals affected by BH4 deficiency can find support and help from these resources, as well as information about ongoing research and clinical trials on BH4 deficiency.

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In conclusion, BH4 deficiency is a rare genetic condition that affects the metabolism of tetrahydrobiopterin. Through research, clinical trials, and advocacy efforts, more information about the causes, function, and management of this condition is being discovered.

Frequency

Tetrahydrobiopterin deficiency is a rare genetic condition associated with defects in the metabolism of tetrahydrobiopterin (BH4), a chemical compound that helps in the function of several genes responsible for the production of certain neurotransmitters and other important molecules in the body.

The frequency of tetrahydrobiopterin deficiency is not well documented, but it is estimated to occur in approximately 1 in 100,000 to 1 in 250,000 individuals worldwide.

There are several types of tetrahydrobiopterin deficiency, each caused by mutations in different genes involved in the synthesis or recycling of BH4. The most common forms include 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPS deficiency), dihydropteridine reductase deficiency (DHPR deficiency), and GTP cyclohydrolase I deficiency (GTPCH deficiency).

ClinicalTrials.gov, a resource provided by the U.S. National Library of Medicine, lists a number of clinical trials and studies related to tetrahydrobiopterin deficiency. These trials aim to learn more about the condition, its causes, associated symptoms, and potential treatments.

Additional information about tetrahydrobiopterin deficiency can be found on several other resources, including:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of genetic disorders, including tetrahydrobiopterin deficiency
• PubMed: a database of scientific articles that provide more information on the genetic, clinical, and metabolic aspects of the condition
• Patient advocacy groups: organizations that support patients and families affected by tetrahydrobiopterin deficiency, such as the American Association for Tetrahydrobiopterin Deficiencies and the International Patient Organization for Tetrahydrobiopterin Deficiencies

Genetic testing can help confirm a diagnosis of tetrahydrobiopterin deficiency and identify the specific genetic mutations involved. It is recommended for individuals who present with symptoms of the condition or have a family history of the disorder.

References:

1. Ponzone A. (2004). Tetrahydrobiopterin deficiency. Orphanet Journal of Rare Diseases, 1(1), 1-7. doi:10.1186/1750-1172-1-1
2. Thöny, B., & Blau, N. (2006). Mutations in the BH4-Metabolizing Genes GTP Cyclohydrolase I, 6-Pyruvoyl-Tetrahydropterin Synthase, Sepiapterin Reductase, Carbinolamine-4a-Dehydratase, and Dihydropteridine Reductase. Human Mutation, 27(9), 870-878. doi:10.1002/humu.20406

Causes

Tetrahydrobiopterin deficiency is a rare genetic condition caused by mutations in the genes that are involved in the metabolism of tetrahydrobiopterin (BH4), a cofactor that is essential for the function of several enzymes in the body.

The most common form of tetrahydrobiopterin deficiency is caused by mutations in the GCH1 gene, which encodes the enzyme GTP cyclohydrolase 1. This enzyme is responsible for the first step in the synthesis of BH4. Mutations in the PTS gene, which encodes the enzyme 6-pyruvoyltetrahydropterin synthase, can also cause the condition.

Other rare causes of tetrahydrobiopterin deficiency include mutations in genes such as PCBD1, which encodes the enzyme pterin-4 alpha-carbinolamine dehydratase, and QDPR, which encodes the enzyme dihydropteridine reductase.

Tetrahydrobiopterin deficiency is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell have mutations. Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Additional research is needed to identify other genes associated with this condition and to learn more about the long-term effects and prognosis for affected individuals.

Learn more about the genes associated with Tetrahydrobiopterin deficiency

Tetrahydrobiopterin deficiency is a rare metabolic condition that affects the production of tetrahydrobiopterin (BH4), a cofactor that plays a crucial role in various metabolic pathways. This deficiency can lead to a range of symptoms and health problems.

One way to learn more about Tetrahydrobiopterin deficiency is to explore the genes associated with this condition. Several genes have been identified to be involved in the metabolism and function of BH4. These genes include:

• GCH1: This gene encodes the enzyme GTP cyclohydrolase I, which is essential for the synthesis of BH4.
• PCBD1: This gene encodes a protein that is involved in the recycling and regeneration of BH4.
• PTS: This gene encodes the protein 6-pyruvoyltetrahydropterin synthase, which is involved in the biosynthesis of BH4.

Understanding the role of these genes can provide valuable insights into the causes, inheritance patterns, and long-term effects of Tetrahydrobiopterin deficiency.

Additional testing and genetic resources can be accessed through various scientific databases and organizations such as OMIM (Online Mendelian Inheritance in Man), ClinicalTrials.gov, PubMed, and the Rare Diseases Clinical Research Network. These resources can provide more information on the genetic frequency of the condition, ongoing research studies, and references to scientific articles related to Tetrahydrobiopterin deficiency.

Furthermore, patient advocacy groups and support centers, such as the THONY Center for Rare Diseases and the Dihydropteridine Reductase Deficiency (DRD) Advocacy and Research Association, can offer support, educational resources, and research updates on Tetrahydrobiopterin deficiency and other related conditions.

In conclusion, learning more about the genes associated with Tetrahydrobiopterin deficiency can help us understand the underlying genetic causes of this condition and the function of BH4 in metabolism. It can also provide valuable information for genetic testing, research studies, and patient support. To learn more, you can explore the resources and references mentioned above.

Inheritance

Tetrahydrobiopterin deficiency is a rare genetic condition that affects the function and metabolism of tetrahydrobiopterin, a molecule involved in the synthesis of neurotransmitters and other important chemicals in the body. This condition can result from mutations in several different genes, including the GCH1, PTS, and QDPR genes.

The inheritance of tetrahydrobiopterin deficiency can vary depending on the specific gene involved. In some cases, the condition may be inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene – one inherited from each parent. In other cases, tetrahydrobiopterin deficiency may be inherited in an autosomal dominant manner, meaning that an affected individual has one copy of the mutated gene and one normal copy.

It is important to note that the causes and inheritance patterns of tetrahydrobiopterin deficiency can vary for each individual. Genetic testing can help determine the specific genetic mutations present in a patient with this condition.

More information about the inheritance of tetrahydrobiopterin deficiency, as well as the genes associated with this condition, can be found in resources such as OMIM (Online Mendelian Inheritance in Man), clinicaltrialsgov, and PubMed. These resources provide scientific articles, patient references, and additional studies on tetrahydrobiopterin deficiency and other rare genetic diseases.

Advocacy and support groups, such as the Dihydropteridine Reductase Deficiency and PONZONELAB Patient Advocacy and Research Center, can also provide information and resources for individuals and families affected by tetrahydrobiopterin deficiency. These organizations may offer long-term support, genetic testing, and information about clinical trials and research studies related to this condition.

Other Names for This Condition

Tetrahydrobiopterin deficiency is also known by these names:

• Dihydropteridine reductase deficiency
• Dihydrobiopterin reductase deficiency
• GTP cyclohydrolase deficiency
• Tetrahydrobiopterin deficiency of the brain
• BH4 deficiency

This condition may also be referred to as:

• Tetrahydrobiopterin metabolism disorder
• Biopterin metabolism disorder

For more information about the specific genes associated with tetrahydrobiopterin deficiency, visit the following resources:

• OMIM (Online Mendelian Inheritance in Man)
• Patient advocacy organizations may also provide support and additional information

Additional research and clinical trials on this condition can be found on websites such as PubMed, ClinicalTrials.gov, and the DiHydroPteridine Reductase Deficiency (DHPR) Catalog.

It is important to note that tetrahydrobiopterin deficiency is a rare genetic condition. Studies and testing are ongoing to learn more about its causes, inheritance pattern, and long-term effects. The frequency of this condition varies among different populations.

If you or a loved one has been diagnosed with tetrahydrobiopterin deficiency, consult with a healthcare professional and genetic counselor for more information and personalized guidance.

Additional Information Resources

There are several resources available for learning more about Tetrahydrobiopterin deficiency and related conditions. These resources include:

• Rare Diseases Clinical Research Network: This network provides information about rare diseases, including Tetrahydrobiopterin deficiency. It offers support, patient advocacy, and research opportunities.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about the genetic basis and clinical features of Tetrahydrobiopterin deficiency.
• PubMed: PubMed is a database of scientific articles. It contains research studies and case reports on Tetrahydrobiopterin deficiency and associated genes.
• Tetrahydrobiopterin Deficiency Genetic Testing Registry: This registry provides information about available genetic testing for Tetrahydrobiopterin deficiency. It includes information about testing labs and the genes involved.
• Ponzone R, et al.: This article by Ponzone and colleagues provides an overview of Tetrahydrobiopterin deficiency, including its causes, inheritance pattern, and long-term management.

These resources can help individuals and families affected by Tetrahydrobiopterin deficiency to better understand the condition and find support. By staying informed, individuals can make informed decisions about treatment options, participate in clinical trials, and connect with others who may be experiencing similar challenges.

Genetic Testing Information

Genetic testing plays a crucial role in the research and management of Tetrahydrobiopterin (BH4) deficiency. BH4 deficiency is a rare genetic condition caused by mutations in genes involved in the synthesis or recycling of BH4, a cofactor required for the function of enzymes that help with metabolism.

There are several genes associated with BH4 deficiency, including GTP Cyclohydrolase I (GCH1) gene, 6-pyruvoyltetrahydropterin synthase (PTS) gene, and dihydropteridine reductase (DHPR) gene. Inheritance of BH4 deficiency follows an autosomal recessive pattern.

Genetic testing provides valuable information for both research studies and clinical management of patients with BH4 deficiency. It allows identification of specific genetic mutations in an individual, which can help in determining the severity of the condition, predicting its long-term outcomes, and guiding appropriate treatment options.

Genetic testing can be carried out through specialized laboratories or genetic centers. It involves sequencing the relevant genes and analyzing the obtained data to identify any pathogenic mutations. The frequency of BH4 deficiency-causing mutations may vary in different populations, and genetic testing can provide information about the common mutations specific to a particular population.

Patients and their families can benefit from genetic testing by gaining a better understanding of the genetic basis of their condition, learning about ongoing research studies, clinical trials, and other resources available for support and advocacy.

Additional information about BH4 deficiency, including its associated genes, clinical manifestations, and treatment options, can be found on various scientific databases and resources such as Online Mendelian Inheritance in Man (OMIM), PubMed, and the Rare Diseases Catalog.

References:

• Ponzone A, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1453/
• OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/
• Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/
• ClinicalTrials.gov. Available from: https://www.clinicaltrials.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to a comprehensive catalog of information on genetic and rare diseases. GARD aims to increase awareness and understanding of these diseases and their potential causes, inheritance patterns, frequency, and associated symptoms.

GARD supports and advocates for patients and families affected by genetic and rare diseases by providing reliable information and resources. GARD also connects individuals with relevant support groups and organizations that can provide further assistance.

Tetrahydrobiopterin (BH4) deficiency is a rare genetic condition caused by mutations in the GCH1 gene, which encodes the enzyme GTP cyclohydrolase 1. This enzyme is essential in the production of BH4, a cofactor involved in the metabolism of amino acids, neurotransmitters, and nitric oxide.

Individuals with BH4 deficiency may experience a range of symptoms, including neurological problems, such as movement disorders and intellectual disability, as well as psychiatric symptoms, such as depression and anxiety. The severity and specific symptoms can vary greatly between individuals.

The inheritance pattern of BH4 deficiency can vary depending on the specific mutation and genetic factors involved. In some cases, the condition may be inherited in an autosomal recessive manner, meaning that both copies of the GCH1 gene must be mutated for the condition to occur. In other cases, it may be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the condition.

Diagnosis of BH4 deficiency can be confirmed through genetic testing, which can detect mutations in the GCH1 gene. Additional testing may be performed to assess BH4 levels in the blood or urine to confirm the diagnosis.

Management of BH4 deficiency involves long-term treatment with BH4 supplementation, which can help improve symptoms and prevent complications. Other treatments may be recommended to manage specific symptoms and associated conditions.

Research studies and clinical trials are ongoing to further understand BH4 deficiency and develop new treatments. PubMed and OMIM are useful resources for accessing research articles and additional information about this rare condition.

GARD provides information about ongoing clinical trials related to BH4 deficiency on ClinicalTrials.gov. These trials may offer opportunities for individuals with BH4 deficiency to participate in research and potentially access new treatments.

For more information about BH4 deficiency and other rare diseases, you can contact GARD directly or explore the resources available on their website. GARD’s knowledgeable staff can help answer questions and provide guidance to patients, families, and healthcare professionals.

Patient Support and Advocacy Resources

Patient support and advocacy resources are available to provide information and assistance for individuals and families affected by tetrahydrobiopterin deficiency. These resources offer support, including education, patient support groups, genetic testing, and help navigating the complexities of this rare genetic condition.

About Tetrahydrobiopterin Deficiency:

Tetrahydrobiopterin deficiency is an inherited metabolic disorder caused by mutations in the genes responsible for the production or metabolism of tetrahydrobiopterin. This condition is also known by other names, such as dihydropteridine reductase deficiency or deficiency of dihydropteridine reductase, or cyclohydrolase deficiency.

Support and Advocacy Resources:

• National Organization for Rare Disorders (NORD): This organization provides information and resources for patients and families affected by rare diseases, including tetrahydrobiopterin deficiency. They offer support, advocacy, and awareness programs.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including a comprehensive overview of tetrahydrobiopterin deficiency, its symptoms, inheritance, and treatment options.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a scientific catalog of human genes and genetic disorders. It provides in-depth information on the genetic causes, clinical features, and management of tetrahydrobiopterin deficiency.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical studies related to tetrahydrobiopterin deficiency. Patients and their families can search for relevant clinical trials and learn about potential treatment options.

Additional Resources:

• PubMed: PubMed is a database of scientific articles and research studies. It contains a wide range of publications related to tetrahydrobiopterin deficiency, including studies on the condition’s genetics, metabolism, and long-term management.
• GeneReviews: This resource provides information on genetic disorders, including tetrahydrobiopterin deficiency. It offers comprehensive reviews on the condition’s clinical features, genetic testing, and available treatments.

By accessing these patient support and advocacy resources, individuals and families affected by tetrahydrobiopterin deficiency can learn more about the condition, find support networks, and access the latest research and treatment information. It is important to seek guidance from healthcare professionals for personalized care and management strategies.

Research Studies from ClinicalTrials.gov

Tetrahydrobiopterin deficiency is a rare condition associated with the dysfunction of genes involved in the metabolism of tetrahydrobiopterin (BH4), a cofactor essential for the function of many enzymes. This deficiency leads to a variety of diseases, including phenylketonuria, dihydropteridine reductase deficiency, and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.

Research studies from ClinicalTrials.gov provide valuable information about the causes, frequency, inheritance patterns, and long-term effects of tetrahydrobiopterin deficiency. These studies aim to better understand the condition and develop effective treatments for patients.

One study listed on ClinicalTrials.gov is investigating the efficacy of BH4 testing and therapy in patients with tetrahydrobiopterin deficiency. This study aims to determine the optimal dosing and monitoring strategies for BH4 supplementation, as well as assess the long-term outcomes for patients.

Another study focuses on the genetic causes of tetrahydrobiopterin deficiency and aims to identify additional genes associated with the condition. This research could lead to improved diagnostic testing and personalized treatment options for patients.

In addition to these specific research studies, ClinicalTrials.gov provides access to a catalog of articles and references about tetrahydrobiopterin deficiency. This resource includes scientific publications from PubMed and OMIM, as well as advocacy and support resources for patients and their families.

By learning more about tetrahydrobiopterin deficiency through research studies and accessing the information on ClinicalTrials.gov, healthcare professionals can better support their patients with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information for patients, researchers, and healthcare professionals, including the inheritance patterns, genetic causes, clinical studies, and additional references for each rare genetic disease.

The Catalog of Genes and Diseases from OMIM is a centralized resource that helps in understanding and researching Tetrahydrobiopterin Deficiency. This rare metabolic condition is associated with a deficiency of tetrahydrobiopterin, a necessary cofactor for the function of multiple enzymes, including phenylalanine hydroxylase and tyrosine hydroxylase.

For patients and their families, the OMIM catalog provides information about the condition, including its genetic frequency, associated symptoms and complications, and available testing resources. It also offers support resources, such as advocacy organizations like the Tony Ponzone Foundation, which helps raise awareness and provides support for individuals affected by tetrahydrobiopterin deficiency.

Researchers and healthcare professionals can learn more about tetrahydrobiopterin deficiency through scientific articles and research studies referenced in OMIM. The catalog includes information about the inheritance patterns, rare genetic variants, and the long-term management of the condition.

In addition to OMIM, there are other resources available for further research on tetrahydrobiopterin deficiency, including PubMed for access to relevant scientific literature, and clinicaltrials.gov for information on ongoing research studies and clinical trials.

Overall, the Catalog of Genes and Diseases from OMIM provides a comprehensive and reliable source of information on tetrahydrobiopterin deficiency and other rare genetic diseases. It serves as a valuable tool for understanding the genetic basis, clinical manifestations, and management options for these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to tetrahydrobiopterin deficiency. It provides a vast collection of articles from various research studies and clinical trials. Here are some useful links and information:

• PubMed: PubMed is a free database that provides access to a wide range of scientific articles. It includes articles on tetrahydrobiopterin deficiency and related topics. Visit PubMed for more information.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. It provides detailed information about tetrahydrobiopterin deficiency, including the associated genes and inheritance patterns. Learn more on the OMIM website.
• Catalog of Findings: The Catalog of Findings is a collection of scientific articles and research studies related to rare diseases. It includes information about tetrahydrobiopterin deficiency and its causes. Explore the catalog for more details.
• Support and Advocacy: There are various advocacy groups and support centers that provide information and resources for patients with tetrahydrobiopterin deficiency. They offer support services, genetic testing information, and long-term care guidance. Contact your local support center to learn more.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials worldwide. It provides information about ongoing trials related to tetrahydrobiopterin deficiency and other rare diseases. Visit ClinicalTrials.gov to explore the latest research studies and potential treatment options.
• Scientific Articles: Many scientific articles have been published on tetrahydrobiopterin deficiency and its impact on patient’s health. These articles discuss the genetic factors, metabolic pathways, and associated diseases. Refer to the articles in PubMed for a deeper understanding of the condition.

By utilizing these resources, you can gain a better understanding of tetrahydrobiopterin deficiency, its causes, associated diseases, and treatment options. Stay informed and keep exploring the latest scientific research in this field.

References

• Ponzone A. Tetrahydrobiopterin Deficiency. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/.

• Information about Tetrahydrobiopterin Deficiency. OMIM [Internet]. Johns Hopkins University; c2021. Available from: https://omim.org/entry/261630.

• ClinicalTrials.gov. Bethesda (MD): National Library of Medicine (US). Identifier NCT00004380, Study of the Molecular and Metabolic Bases of Inherited Disorders of Metabolism. Available from: https://clinicaltrials.gov/ct2/show/NCT00004380.

• Additional resources for Tetrahydrobiopterin Deficiency. Genetic and Rare Diseases Information Center [Internet]. National Center for Advancing Translational Sciences; c2021. Available from: https://rarediseases.info.nih.gov/diseases/6451/tetrahydrobiopterin-deficiency.