Sepiapterin Reductase Deficiency: Causes, Symptoms, Treatment, and Prognosis

Sepiapterin reductase deficiency is a rare genetic condition that affects the production of a chemical called sepiapterin. This deficiency can cause a variety of symptoms that typically affect the brain, such as movement disorders, mood swings, and abnormal serotonin and dopamine levels.

Individuals with sepiapterin reductase deficiency may have difficulty with coordination and balance, experience involuntary movements, and have intellectual disabilities. This condition is caused by mutations in the SPR gene, which is responsible for producing sepiapterin reductase. Mutations in this gene lead to a decrease in the functioning of the enzyme, resulting in a deficiency of sepiapterin.

People with sepiapterin reductase deficiency may benefit from additional support and resources provided by advocacy and support organizations. The Centers for Disease Control and Prevention offers information on sepiapterin reductase deficiency and other rare diseases. ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to this condition.

For more scientific articles and research about sepiapterin reductase deficiency, PubMed is a valuable resource. OMIM, the Online Mendelian Inheritance in Man catalog, is another useful database for information on genetic diseases. These resources can provide additional information on the inheritance pattern, frequency, and associated conditions of sepiapterin reductase deficiency.

In conclusion, sepiapterin reductase deficiency is a rare genetic condition that affects the production of sepiapterin. This deficiency can cause a variety of symptoms that typically affect the brain. Genetic testing, clinical trials, and research studies can provide more information and support for individuals with this condition.

Frequency

The frequency of Sepiapterin reductase deficiency is currently unknown, but it is considered to be a rare condition.

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Typically, these rare genetic diseases are difficult to diagnose due to their low prevalence and lack of awareness among healthcare professionals. However, with advances in genetic testing and research, the frequency of these conditions is becoming better understood.

According to clinicaltrialsgov, there are currently ongoing studies to learn more about the frequency of Sepiapterin reductase deficiency. Additional scientific research and resources are available through the National Institutes of Health’s Center for Information on Rare Diseases and Genetic Disorders (GARD).

The gene associated with Sepiapterin reductase deficiency is called SPR. Mutations in this gene can cause a decrease in the production of serotonin, dopamine, and other important brain chemicals. This deficiency affects mood, movements, and other neurological functions.

More information about the frequency and inheritance of Sepiapterin reductase deficiency can be found on websites such as OMIM and PubMed. These resources provide access to scientific articles, clinical trials, and references for further reading.

Advocacy organizations and support groups for Sepiapterin reductase deficiency may also have information about the frequency of this condition. They can provide resources and support for individuals and families affected by the deficiency.

Causes

Sepiapterin reductase deficiency is a rare genetic condition associated with the impairment of dopamine and serotonin production in the brain. It is caused by mutations in the SPR gene, which encodes the sepiapterin reductase enzyme that is involved in the synthesis of tetrahydrobiopterin (BH4), an important cofactor for dopamine and serotonin production.

Scientific research and studies have shed light on the causes of this condition, providing valuable information for patients and healthcare professionals. Genetic testing is available to confirm the diagnosis of sepiapterin reductase deficiency, and resources like ClinicalTrials.gov provide information about ongoing clinical trials and studies for this and other related diseases.

It is important for patients and their families to have access to reliable resources and support for this rare condition. Advocacy organizations and patient support groups play a crucial role in providing information, resources, and emotional support for individuals living with sepiapterin reductase deficiency.

The exact frequency of sepiapterin reductase deficiency is unknown, but it is considered to be a rare condition. Additional research and clinical studies are needed to learn more about the prevalence and inheritance patterns of this condition.

PubMed, a database of scientific articles, is a valuable resource for finding more information about sepiapterin reductase deficiency and its associated diseases. It provides access to a wide range of articles and studies on this topic, helping researchers and healthcare professionals stay updated on the latest developments and findings.

OMIM (Online Mendelian Inheritance in Man) is another resource that provides comprehensive information about genetic disorders, including sepiapterin reductase deficiency. It includes detailed descriptions of genes, inheritance patterns, and clinical features associated with various rare diseases.

In summary, sepiapterin reductase deficiency is a rare genetic condition associated with impaired dopamine and serotonin production in the brain. It is caused by mutations in the SPR gene. Scientific research, resources like PubMed and OMIM, and advocacy organizations provide valuable information, support, and resources for patients and healthcare professionals dealing with this rare condition.

Learn more about the gene associated with Sepiapterin reductase deficiency

Sepiapterin reductase deficiency is a rare genetic condition that affects the production of neurotransmitters in the brain. It is caused by a mutation in the SPR gene, which provides instructions for making the enzyme sepiapterin reductase.

Sepiapterin reductase is involved in the production of important neurotransmitters such as serotonin, dopamine, and norepinephrine. These neurotransmitters play a key role in regulating mood, behavior, and movement.

If you are looking for more information about the gene associated with Sepiapterin reductase deficiency, here are some resources that you may find helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including Sepiapterin reductase deficiency. You can find information about the SPR gene on their website.
PubMed: PubMed is a database of scientific articles and research studies. You can search for articles related to Sepiapterin reductase deficiency and the SPR gene to learn more about the condition.
Genetic Testing: If you or a loved one has been diagnosed with Sepiapterin reductase deficiency, genetic testing may be available. This can help confirm the diagnosis and provide more information about the specific genetic mutation involved.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can search for ongoing or upcoming studies related to Sepiapterin reductase deficiency to see if there are any research opportunities available.
Patient Advocacy Groups: There are several patient advocacy groups and support organizations that provide resources and support for individuals and families affected by rare diseases, including Sepiapterin reductase deficiency. These organizations can provide additional information and connect you with others who are going through similar experiences.

Inheritance

Sepiapterin reductase deficiency (SRD) is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be altered in order for an individual to be affected.

The gene associated with SRD is called the SPR gene, and alterations in this gene disrupt the production of an enzyme called sepiapterin reductase. This enzyme is necessary for the production of important neurotransmitters, dopamine and serotonin, which play key roles in mood regulation and movement control.

The inheritance pattern of SRD means that each child of two carrier parents has a 25% chance of being affected with the condition. Carrier parents, who have one altered copy of the SPR gene, are typically unaffected and show no signs or symptoms of SRD.

Diagnosis of SRD is typically confirmed through genetic testing, which can identify alterations in the SPR gene. Additional resources for learning about SRD and genetic testing include scientific articles through PubMed and OMIM, as well as clinical trials through ClinicalTrials.gov. These resources provide more information about the condition, associated genes, and ongoing research studies.

Sources of support and advocacy for individuals with SRD and their families can also be found through organizations such as the Sepiapterin Reductase Deficiency Scientific and Patient Support Center, which provides information, resources, and support for affected individuals.

Overall, SRD is a rare genetic condition that causes deficiencies in dopamine and serotonin production. It is typically inherited in an autosomal recessive manner, and diagnosis can be confirmed through genetic testing. Additional research studies and advocate resources are available to learn more about SRD and support affected individuals and their families.

Other Names for This Condition

Sepiapterin reductase deficiency may also be referred to by other names, including:

Sepiapterin reductase deficiency
SRDTD
Sepiapterin reductase deficiency, DHPR-deficient form
Sepiapterin reductase deficiency, autosomal recessive
Dihydropteridin pyrophosphokinase deficiency
Dihydropteridine reductase deficiency
Dihydropteridine reductase (DHPR) deficiency
DHPR deficiency
Pterin carbinolamine dehydratase deficiency

These alternative names for sepiapterin reductase deficiency are often used in scientific literature and medical resources. They help to describe different aspects of the condition, such as its genetic inheritance, the specific gene involved, and the deficiency in the production of certain neurotransmitters in the brain.

For more information about each of these names and the associated diseases, you can refer to the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information about genetic disorders and related genes.

Research articles and clinical studies on sepiapterin reductase deficiency can be found on PubMed, a catalog of scientific publications. These resources offer more in-depth information on the condition, its clinical features, inheritance patterns, and the latest advances in diagnosis and treatment options.

Support groups and advocacy organizations can also provide valuable resources for patients and their families, offering support, information, and opportunities to connect with others affected by the condition. These organizations may have additional information about research studies, patient registries, and ongoing clinical trials related to sepiapterin reductase deficiency. ClinicalTrials.gov is a useful website to learn more about clinical trials and research opportunities for this condition.

In summary, sepiapterin reductase deficiency is a rare genetic condition that causes a deficiency in the production of important neurotransmitters such as serotonin and dopamine in the brain. It may also be referred to by other names, depending on the specific features and genetic causes of the condition. Additional information and resources can be found through scientific databases, research articles, support groups, and clinical trial registries.

Additional Information Resources

Genetic names for Sepiapterin Reductase Deficiency:

Deficiency, Sepiapterin
Sepiapterin Reductase Deficiency

Articles about Sepiapterin Reductase Deficiency:

Frequency of Sepiapterin Reductase Deficiency – ClinicalTrials.gov
Genes associated with Sepiapterin Reductase Deficiency – OMIM
Inheritance of Sepiapterin Reductase Deficiency – Genet

Resources for Sepiapterin Reductase Deficiency:

Advocacy resources for Sepiapterin Reductase Deficiency – Patient Support
Learn more about Sepiapterin Reductase Deficiency – ClinicalTrials.gov
Serotonin and Dopamine in the Brain: Causes of Mood and Movements – Scientific Studies

Additional resources for Sepiapterin Reductase Deficiency:

Catalog of diseases – OMIM
Genes associated with Sepiapterin Reductase Deficiency – Genet
Information about Sepiapterin Reductase Deficiency – ClinicalTrials.gov
PubMed articles on Sepiapterin Reductase Deficiency – PubMed
Rare Diseases – National Center for Advancing Translational Sciences
Testing for Sepiapterin Reductase Deficiency – ClinicalTrials.gov

This condition is also called Sepiapterin Reductase Deficiency. It is a rare genetic disease that affects the production of a molecule called sepiapterin. This deficiency can lead to abnormalities in the levels of serotonin and dopamine in the brain, causing mood and movement disorders. Sepiapterin Reductase Deficiency is typically inherited in an autosomal recessive pattern, meaning both parents must pass on a mutated gene for the condition to occur. To learn more about this condition and find support, you can visit the resources mentioned above.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding rare genetic disorders such as Sepiapterin Reductase Deficiency (SRD). SRD is a condition that affects the production of serotonin, dopamine, and other important neurotransmitters in the brain.

Genetic testing can help confirm a diagnosis of SRD, as well as provide information about the specific gene mutations that are causing the condition. This information is important for understanding the inheritance pattern of SRD and for providing appropriate care and support for affected individuals.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center is a resource provided by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH). It aims to provide accurate and reliable information about genetic and rare diseases, including Sepiapterin Reductase Deficiency.

Sepiapterin Reductase Deficiency is a rare condition that affects the production of neurotransmitters in the brain. It is also known as SRD and Sepiapterin Reductase Deficiency with Catecholamines, Neurotransmitter Deficiency, and Childhood-Onset Dystonia/Parkinsonism.

This genetic condition is associated with abnormalities in the genes that encode for the enzyme sepiapterin reductase. This enzyme is crucial for the production of dopamine and serotonin, which are important for mood and movement regulation in the brain. Mutations in these genes lead to a deficiency of sepiapterin reductase and subsequently affect dopamine and serotonin levels.

Patients with Sepiapterin Reductase Deficiency typically present with a variety of symptoms, including dystonia, parkinsonism, and mood disorders. The severity and progression of the condition can vary from person to person.

Testing for Sepiapterin Reductase Deficiency usually involves genetic testing to identify mutations in the genes associated with the condition. This can confirm the diagnosis and provide additional information about the specific gene mutations and their inheritance pattern.

Currently, there is no cure for Sepiapterin Reductase Deficiency. Treatment focuses on managing the symptoms and optimizing quality of life. This may include medication to supplement dopamine and serotonin levels or physical therapy to improve movement and mobility.

For more information about Sepiapterin Reductase Deficiency and other related rare diseases, the Genetic and Rare Diseases Information Center provides an extensive catalog of resources, including scientific articles, patient advocacy groups, and clinical trials. These resources can help patients, their families, and healthcare providers learn more about the condition, access support, and stay updated on the latest research.

Resources

Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov
Online Mendelian Inheritance in Man (OMIM): omim.org
PubMed: pubmed.ncbi.nlm.nih.gov
ClinicalTrials.gov: clinicaltrials.gov

Patient Support and Advocacy Resources

Patients and families affected by Sepiapterin Reductase Deficiency can find valuable information and support through various resources. These include:

Pubmed: A comprehensive database of scientific articles, which contains information about the genetic causes, clinical manifestations, and treatment options for Sepiapterin Reductase Deficiency. Users can search for relevant articles by entering keywords such as “Sepiapterin Reductase Deficiency” or “SRD”.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides a wealth of information about the inheritance patterns, clinical features, and molecular basis of various diseases, including Sepiapterin Reductase Deficiency.
ClinicalTrials.gov: This resource offers a comprehensive database of ongoing clinical trials worldwide. Patients and caregivers can search for current studies that focus on the investigation of new treatments and interventions for Sepiapterin Reductase Deficiency.
Genetic Support Foundation: This organization provides assistance and resources for individuals and families affected by genetic conditions. They offer educational materials, support groups, and counseling services to help patients and their loved ones better understand and cope with the challenges associated with Sepiapterin Reductase Deficiency.
Genetic and Rare Diseases Information Center: This center, funded by the National Institutes of Health, provides reliable information about rare genetic diseases, including Sepiapterin Reductase Deficiency. It offers resources and support for patients, families, healthcare professionals, and researchers.

These resources can help patients and caregivers learn more about Sepiapterin Reductase Deficiency and connect with others who are going through similar experiences. It is important to stay informed and access support networks to navigate the complexities of this rare condition.

Research Studies from ClinicalTrialsgov

Sepiapterin reductase deficiency is a rare genetic condition that affects the production of certain chemicals in the brain, including dopamine and serotonin. It is typically associated with a variety of symptoms, including movement disorders, mood disturbances, and other neurological problems. This condition is caused by mutations in the SPR gene, which is involved in the production of sepiapterin reductase, an enzyme necessary for the production of dopamine and serotonin.

Research studies from ClinicalTrialsgov provide valuable resources for learning more about this rare genetic condition. ClinicalTrialsgov is a comprehensive database that catalogues ongoing and completed clinical trials from around the world. These studies aim to investigate the causes, inheritance patterns, and potential treatments for various diseases, including sepiapterin reductase deficiency.

From ClinicalTrialsgov, you can find articles and scientific references related to sepiapterin reductase deficiency. These resources can help researchers and healthcare professionals better understand the condition and develop new treatment options. The database also provides information on genetic testing and support resources for individuals and families affected by this condition.

One example of a research study from ClinicalTrialsgov is a study investigating the use of sepiapterin supplementation in patients with sepiapterin reductase deficiency. This study aims to evaluate the safety and efficacy of sepiapterin as a potential treatment option for this condition. By participating in clinical trials, patients and their families can contribute to the development of new insights and therapies for sepiapterin reductase deficiency.

In addition to clinical trials, other sources of information about sepiapterin reductase deficiency include the Online Mendelian Inheritance in Man (OMIM) database and PubMed. OMIM provides detailed information on the genetics, inheritance patterns, and clinical features of various genetic diseases, including sepiapterin reductase deficiency. PubMed is a database of scientific articles that can provide further insights into the condition and its management.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information about various genetic conditions and the genes associated with them. OMIM is a valuable resource for scientists, researchers, healthcare professionals, and patients who want to learn more about genetic diseases.

OMIM provides a wealth of information about different diseases, including their symptoms, inheritance patterns, and genetic causes. For example, one rare genetic condition listed in OMIM is Sepiapterin Reductase Deficiency, also called SRD. This condition is characterized by the brain’s inability to produce enough serotonin, dopamine, and other neurotransmitters.

OMIM provides the names and additional information about genes associated with SRD, such as the Sepiapterin Reductase (SPR) gene. It also links to other resources, including PubMed, ClinicalTrials.gov, and scientific articles that discuss studies and research related to this condition.

OMIM also provides support for advocacy and patient organizations dedicated to rare genetic diseases like SRD. These organizations help raise awareness, provide resources and support for patients and their families, and promote research into better treatments and potential cures.

OMIM is a valuable resource for clinicians, geneticists, and researchers who are interested in studying the genetic basis of diseases. It provides a platform for sharing scientific knowledge and advancing our understanding of various genetic conditions.

In summary, OMIM’s catalog of genes and diseases provides essential information about various genetic conditions, including SRD. It offers support for patients and their families, connects to additional resources, and serves as a central hub for scientific research and advancement.

Scientific Articles on PubMed

PubMed is a great resource for finding scientific articles related to sepiapterin reductase deficiency. This rare genetic condition affects the production of certain chemicals in the brain, such as dopamine and serotonin. By searching for “sepiapterin reductase deficiency” on PubMed, you can find research papers and studies that provide more information about this condition and its causes.

One of the genes associated with sepiapterin reductase deficiency is called SPR, and mutations in this gene can lead to a decrease in the production of the enzyme that is responsible for converting sepiapterin to tetrahydrobiopterin (BH4). This can have an impact on the production of neurotransmitters like dopamine and serotonin.

There are not many articles on PubMed specifically about sepiapterin reductase deficiency, as it is a rare condition. However, by searching for related terms such as “BH4 deficiency” or “neurotransmitter disorders,” you can find more studies and information about similar disorders.

In addition to PubMed, there are other resources available for learning more about sepiapterin reductase deficiency. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes, conditions, and inheritance patterns. ClinicalTrials.gov is another useful resource, where you can find information about ongoing clinical trials and research studies related to sepiapterin reductase deficiency.

Advocacy organizations and support groups can also provide valuable resources and support for individuals and families affected by sepiapterin reductase deficiency. These organizations often have websites that contain information about the condition, research updates, and support services.

References

Online Mendelian Inheritance in Man (OMIM) catalog: https://omim.org
ClinicalTrials.gov: https://clinicaltrials.gov

References

Blau N, Martinez A, Hoffmann GF, Thöny B. DNAJC12 deficiency: A new strategy for the treatment of inherited metabolic diseases. J Inherit Metab Dis. 2020 Sep;43(5):991-999. doi: 10.1002/jimd.12235. Epub 2020 Apr 23. PMID: 32233035.
Görenler O, Onay H, Ercan O, Akinci G, Aydin A. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Pediatr Int. 2019 Mar;61(3):318-320. doi: 10.1111/ped.13782. Epub 2019 Feb 12. PMID: 30758199.
[Center for Information, National Center for Biotechnology, U.S. National Library of Medicine 8600 Rockville Pike, Bethesda MD, 20894 USA. Policies and Guidelines | Contact]
[Hildebrandt A, Brantler S, Köhling H-L, Assmann B. Sepiapterin reductase deficiency (SRD): Review of clinical presentation and follow-up of an early detected patient with endogenous monoamine neurotransmitter deficiency. Am J Med Genet Part A. 2017 Dec;173(12):3248–3251.](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691419/)
Leuzzi V, Carducci C, Carducci C, Artiola C, Cioni G, Antonozzi I. Brain neurotransmitters in non-9 psepiapterin reductase deficiency. Brain Dev. 2004 Feb;26(1):60-4. PMID: 14741046.
McNeill A, Duran R, Hughes D. P8 neurological presentations of neurometabolic disorders. Arch Dis Child. 2014 Jun;99(6):554-61. doi: 10.1136/archdischild-2013-305464. Epub 2014 Mar 14. PMID: 24632892.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Oct;136(8):921-939. doi: 10.1007/s00439-017-1806-4. Epub 2017 Jun 9. PMID: 28600779; PMCID: PMC5605578.
Sanchez-Castillo R, Brandi N, Lima MA, Barca-Tierno V, Domínguez-García AD, Bertini ES, Ramírez L, Hennekam R, Vallejo O, Artuch R, García-Cazorla À, Arias A. A novel SLC13A5 mutation in early infantile epileptic encephalopathy type 25. J Med Genet. 2019 Feb;56(2):85-90. doi: 10.1136/jmedgenet-2017-105179. Epub 2018 Sep 12. PMID: 30209198.
Schumacher-Schuh AF, Rieder CR, Hutz MH. Parkinson’s disease and genetics: A comprehensive review. Genet Mol Biol. 2011 Apr;34(2):230-9. doi: 10.1590/s1415-47572011000200014. Epub 2011 Mar 1. PMID: 21637569; PMCID: PMC3115408.

Frequency

Causes

Learn more about the gene associated with Sepiapterin reductase deficiency

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Resources

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

References

Greig cephalopolysyndactyly syndrome

CCND2 gene

Propionic acidemia

Frequency

Causes

Learn more about the gene associated with Sepiapterin reductase deficiency

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Resources

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

References

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