Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare genetic condition that affects the metabolism of the neurotransmitter gamma-hydroxybutyric acid (GHB). This condition is caused by mutations in the ALDH5A1 gene, which encodes an enzyme called succinic semialdehyde dehydrogenase. SSADH deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for a person to develop the condition.

Patients with SSADH deficiency often experience a delay in reaching developmental milestones and may have learning disabilities. Symptoms of the condition can vary widely, but may include decreased muscle tone, seizures, and behavioral problems. The frequency of these symptoms and their severity can also vary among affected individuals.

Diagnosis of SSADH deficiency can be done through genetic testing, which can identify mutations in the ALDH5A1 gene. Additional testing, such as brain imaging and biochemical analysis, may be done to confirm the diagnosis and assess the extent of the condition.

Treatment for SSADH deficiency is primarily supportive and aims to manage the symptoms. Currently, there are no specific medications to treat the underlying cause of the condition. However, research is ongoing and clinical trials are available to explore potential treatment options.

The SSADH Family Support & Resource Group and the National Organization for Rare Disorders (NORD) provide advocacy, support, and resources for individuals and families affected by SSADH deficiency. The SSADH Family Support & Resource Group maintains a comprehensive catalog of scientific articles, patient stories, and other resources related to the condition.

For more information about SSADH deficiency, visit the SSADH Family Support & Resource Group’s website or refer to the OMIM entry for Succinic semialdehyde dehydrogenase deficiency. Articles about SSADH deficiency can also be found on PubMed, the National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center (GARD), and the ClinicalTrials.gov database.

Frequency

According to a study published on PubMed, the frequency of Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) in the general population is estimated to be approximately 1 in 250,000 to 1 in 1,000,000. This makes SSADH a rare condition.

The SSADH-Advocacy Center provides information about this rare disorder, including resources for patients and families affected by SSADH. They have a list of additional articles and studies related to the genetic causes, symptoms, and inheritance of SSADH.

OMIM (Online Mendelian Inheritance in Man) is another scientific resource that describes the inheritance and clinical features of SSADH deficiency. The OMIM catalog includes information about the gene associated with SSADH deficiency, ALDH5A1.

Genetic testing can be done to confirm a diagnosis of SSADH deficiency. The Genetic Testing Registry provides more information about available genetic tests for this condition.

Research on SSADH deficiency is ongoing, and clinical trials can provide opportunities for patients to participate in studies aimed at understanding the condition better and developing potential treatments. Information about clinical trials related to SSADH deficiency can be found on websites such as ClinicalTrials.gov.

Causes

Succinic semialdehyde dehydrogenase deficiency, also known as gamma-hydroxybutyric aciduria, is a rare genetic condition caused by mutations in the ALDH5A1 gene. This gene provides instructions for making an enzyme called succinic semialdehyde dehydrogenase, which is involved in the breakdown of a neurotransmitter called gamma-aminobutyric acid (GABA).

Gamma-hydroxybutyric acid (GHB) is formed from GABA and is normally broken down further by succinic semialdehyde dehydrogenase. However, in individuals with succinic semialdehyde dehydrogenase deficiency, the enzyme is not working properly, leading to a buildup of GHB and its precursor succinic semialdehyde in the body.

Succinic semialdehyde dehydrogenase deficiency is inherited in an autosomal recessive manner, which means that both copies of the ALDH5A1 gene in each cell have mutations. This condition is extremely rare and its exact frequency is unknown.

There are currently no other known genes associated with succinic semialdehyde dehydrogenase deficiency.

Although the specific causes of succinic semialdehyde dehydrogenase deficiency are genetic, it is important to note that the condition is not passed down directly from parent to child in most cases. Instead, both parents of an affected child are usually carriers of one ALDH5A1 gene mutation, and the child inherits two mutated copies of the gene. In some cases, however, succinic semialdehyde dehydrogenase deficiency may occur as a result of a de novo mutation, which means it is not inherited from the parents and occurs spontaneously.

Research studies suggest that mutations in the ALDH5A1 gene may result in decreased enzyme activity, leading to an accumulation of GHB and succinic semialdehyde. The exact mechanism by which this accumulation leads to the symptoms of succinic semialdehyde dehydrogenase deficiency is still under investigation.

For more information about the specific genes associated with succinic semialdehyde dehydrogenase deficiency, please refer to the OMIM catalog or consult a genetics professional.

Testing for mutations in the ALDH5A1 gene can confirm a diagnosis of succinic semialdehyde dehydrogenase deficiency. Genetic testing may also be recommended for family members of an affected individual to determine their carrier status.

Additional studies and research are needed to better understand the genetic and molecular mechanisms underlying succinic semialdehyde dehydrogenase deficiency, as well as to develop potential treatments for the condition.

For more scientific information about succinic semialdehyde dehydrogenase deficiency and related genetic diseases, you may refer to articles available on PubMed.

Patient support and advocacy groups can provide information and resources to individuals and families affected by succinic semialdehyde dehydrogenase deficiency. ClinicalTrials.gov is also a valuable resource for current information on research studies and clinical trials related to this condition.

Learn more about the gene associated with Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency is a rare genetic condition that affects the function of the gene known as ALDH5A1. This gene provides instructions for making the enzyme succinic semialdehyde dehydrogenase, which is involved in the breakdown of a neurotransmitter called gamma-hydroxybutyric acid (GHB) in the brain.

ALDH5A1 is located on chromosome 6 and is also known by other names such as 4-hydroxybutyric aciduria, Aldh5a1 deficiency, gamma-hydroxybutyric aciduria, or SSADH deficiency.

Succinic semialdehyde dehydrogenase deficiency is inherited in an autosomal recessive manner, which means that both copies of the ALDH5A1 gene in each cell must have mutations for an individual to be affected. Individuals with only one mutated copy of the gene are carriers and typically do not experience any symptoms of the condition.

People with Succinic semialdehyde dehydrogenase deficiency have a decrease in the activity of the succinic semialdehyde dehydrogenase enzyme, which leads to an increase in GHB levels in the brain. This can cause a variety of symptoms, including developmental delay, intellectual disability, seizures, sleep disturbances, and behavioral problems.

To learn more about Succinic semialdehyde dehydrogenase deficiency and the ALDH5A1 gene, you can explore the following resources:

OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders that provides detailed information about ALDH5A1 and Succinic semialdehyde dehydrogenase deficiency.
PubMed: A database of scientific articles that includes research studies, case reports, and reviews about Succinic semialdehyde dehydrogenase deficiency and related topics.
ClinicalTrials.gov: A database of clinical trials that are currently recruiting patients with Succinic semialdehyde dehydrogenase deficiency. These trials may offer opportunities for additional testing and research.
Research and advocacy organizations: There are several organizations dedicated to supporting individuals and families affected by Succinic semialdehyde dehydrogenase deficiency. These organizations may provide resources, information, and opportunities for participation in research studies.

It is important to consult with healthcare professionals and genetic counselors for specific information and guidance related to Succinic semialdehyde dehydrogenase deficiency and the ALDH5A1 gene.

Inheritance

Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is an autosomal recessive disorder. This means that individuals need to have two copies of the affected gene in order to have the condition. When both parents are carriers of the SSADH deficiency gene, there is a 25% chance for each child to be affected.

The SSADH deficiency gene is cataloged as ALDH5A1 and is located on chromosome 6. Mutations in this gene cause a decrease in the production of the enzyme responsible for metabolizing succinic semialdehyde into succinic acid. This decreased enzyme activity leads to the accumulation of succinic semialdehyde in the body.

People with SSADH deficiency have a variety of symptoms which can range from mild to severe, including developmental delay, intellectual disability, and seizures. Other features may include hypotonia (decreased muscle tone), ataxia (lack of coordination), and language impairments.

Other Names for This Condition

Succinic semialdehyde dehydrogenase deficiency is also known by several other names. These include:

4-Hydroxybutyric aciduria
Gamma-hydroxybutyric aciduria
Gamma-hydroxybutyric dehydrogenase deficiency
4-Hydroxybutyric dehydrogenase deficiency
GABSD
Succinate semialdehyde dehydrogenase deficiency

These names reflect the various aspects of this rare genetic condition, which affects the metabolism and genetic signals involved in the breakdown of a substance called succinic semialdehyde. This condition is associated with a decrease in the activity of the enzyme succinic semialdehyde dehydrogenase, which is responsible for converting succinic semialdehyde into the molecule succinic acid.

More information about succinic semialdehyde dehydrogenase deficiency can be found on the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic diseases and associated genes. Additional resources for learning about this condition include scientific articles available on PubMed, as well as clinical trials and studies listed on ClinicalTrials.gov.

Genetic testing can be carried out to confirm the diagnosis of succinic semialdehyde dehydrogenase deficiency. This testing can detect mutations in the ALDH5A1 gene, which is responsible for producing the enzyme involved in the breakdown of succinic semialdehyde. Genetic counseling and support resources are available for patients and families affected by this condition through patient advocacy groups and medical centers specializing in rare diseases.

References:

Acosta, M.T., et al. (2001). Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. Journal of Inherited Metabolic Disease, 24(2), 101-114.
Tuchman, R. (2006). CSAD – succinic semialdehyde dehydrogenase deficiency. European Journal of Paediatric Neurology, 10(3), 115-119.
ALDH5A1 gene. (n.d.). Gene – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ALDH5A1
Succinic semialdehyde dehydrogenase deficiency. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/2330/succinic-semialdehyde-dehydrogenase-deficiency

Additional Information Resources

For additional information about Succinic Semialdehyde Dehydrogenase Deficiency, you can explore the following resources:

Genetic and Rare Diseases Information Center (GARD): GARD provides information about this rare genetic disorder, including its symptoms, causes, inheritance, and available resources. You can find more information at https://rarediseases.info.nih.gov/diseases/5256/index.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can access more details about the Succinic Semialdehyde Dehydrogenase Deficiency gene and associated diseases at https://omim.org.
National Center for Biotechnology Information (PubMed): PubMed is a database of scientific research articles. You can search for articles related to Succinic Semialdehyde Dehydrogenase Deficiency and learn more about the studies and advancements in this field. Visit https://pubmed.ncbi.nlm.nih.gov to access PubMed.
Support and Advocacy: Patients and their families can find support and advocacy organizations that focus on Succinic Semialdehyde Dehydrogenase Deficiency. These organizations provide information, resources, and a community for those affected. Examples include the Acosta Syndrome Support & Research Association (http://www.acostasrd.org) and the Tuchman Foundation (https://tuchmanfoundation.org).
Clinical Trials: ClinicalTrials.gov is a database of clinical studies and trials. You can search for ongoing or completed studies related to Succinic Semialdehyde Dehydrogenase Deficiency and find information about participating in these trials. Explore the available options at https://clinicaltrials.gov.

These resources will provide you with more information about Succinic Semialdehyde Dehydrogenase Deficiency, its genetic causes, associated symptoms and diseases, research studies, and support options available for patients and their families.

Genetic Testing Information

Succinic semialdehyde dehydrogenase deficiency is a rare genetic condition caused by mutations in the ALDH5A1 gene. This gene is responsible for the production of an enzyme called succinic semialdehyde dehydrogenase, which is involved in the breakdown of a neurotransmitter called gamma-hydroxybutyric acid (GHB).

Inheritance of succinic semialdehyde dehydrogenase deficiency follows an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Individuals who inherit only one copy of the mutated gene are known as carriers and typically do not show symptoms of the disorder.

Genetic testing can be done to confirm a diagnosis of succinic semialdehyde dehydrogenase deficiency. This testing involves analyzing the ALDH5A1 gene for mutations. Results from genetic testing can help provide information about the specific gene mutations present and can also be useful for genetic counseling and family planning purposes.

Further research and studies are ongoing to better understand the genetic causes of succinic semialdehyde dehydrogenase deficiency and to develop potential treatments or interventions. If you are interested in participating in research or clinical trials related to this condition, you can find more information on websites such as ClinicalTrials.gov and PubMed.

The Genetics Home Reference website, managed by the National Center for Biotechnology Information (NCBI), provides comprehensive information about succinic semialdehyde dehydrogenase deficiency, including genetic testing resources, associated symptoms, and inheritance patterns. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that hosts a catalog of genes and genetic diseases, including information on succinic semialdehyde dehydrogenase deficiency.

Advocacy and patient support organizations, such as the Tuchman Family Foundation and the Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) Family Support Group, can also provide additional information, resources, and support for individuals and families affected by this condition.

References:

Tuchman, M. (2020). Succinic semialdehyde dehydrogenase deficiency. In: GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK3790/
Acosta, M.T. (1999). Succinic semialdehyde dehydrogenase deficiency. In: GeneTests. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1190/
Additional articles and research studies on succinic semialdehyde dehydrogenase deficiency can be found on PubMed and other scientific databases.

Genetic and Rare Diseases Information Center

Succinic semialdehyde dehydrogenase deficiency, also known as gamma-hydroxybutyric aciduria, is a rare genetic condition. It is caused by a deficiency in the enzyme succinic semialdehyde dehydrogenase, which leads to the accumulation of gamma-hydroxybutyric acid in the body.

This condition has an inheritance pattern that is autosomal recessive, which means that an affected individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The specific gene associated with succinic semialdehyde dehydrogenase deficiency is ALDH5A1, located on chromosome 6.

The prevalence of succinic semialdehyde dehydrogenase deficiency is not well known, but it is considered to be a rare condition. It has been reported in individuals of various ethnic backgrounds, and both males and females can be affected.

Symptoms of succinic semialdehyde dehydrogenase deficiency may vary among affected individuals. Common signs and symptoms include developmental delay, intellectual disability, sleep disturbances, seizures, and behavioral problems. Other features that have been reported in some individuals include hypotonia, speech difficulties, and distinctive facial features.

Diagnosis of succinic semialdehyde dehydrogenase deficiency is typically based on the presence of characteristic symptoms and the detection of elevated levels of gamma-hydroxybutyric acid in the urine or blood. Genetic testing can confirm the diagnosis by identifying mutations in the ALDH5A1 gene.

Treatment for succinic semialdehyde dehydrogenase deficiency is currently symptomatic and supportive. It may include medications to help control seizures and behavioral symptoms, as well as early intervention and special education services for developmental delay and intellectual disability.

Research studies are ongoing to learn more about the genetic causes of succinic semialdehyde dehydrogenase deficiency and to develop new treatments. ClinicalTrials.gov provides information on current clinical trials for this condition.

Genetic and Rare Diseases Information Center (GARD) provides additional resources and support for individuals and families affected by succinic semialdehyde dehydrogenase deficiency. GARD offers information on related scientific articles, advocacy organizations, patient support groups, and research studies.

Patient Support and Advocacy Resources

If you or a loved one has succinic semialdehyde dehydrogenase deficiency (SSADH), it is important to know that you are not alone. There are a number of patient support and advocacy resources available to provide information, support, and resources to individuals and families affected by this rare genetic condition.

Genetic and Rare Diseases Information Center (GARD)

GARD provides information about rare genetic and/or orphan diseases for patients and their families, healthcare professionals, and the public.
Website: https://rarediseases.info.nih.gov/

Organic Acidemia Association (OAA)

OAA is a support and advocacy organization for families affected by organic acid disorders, including succinic semialdehyde dehydrogenase deficiency.
Website: http://www.oaanews.org/

SSADH Association

The SSADH Association is a non-profit organization dedicated to raising awareness and supporting research for succinic semialdehyde dehydrogenase deficiency.
Website: http://www.ssadh.net/

Scientific Publications and Research Articles

Stay up-to-date with the latest research and scientific studies on succinic semialdehyde dehydrogenase deficiency by exploring articles, publications, and studies available on PubMed and OMIM.
PubMed: https://pubmed.ncbi.nlm.nih.gov/
OMIM: https://www.omim.org/

Clinical Trials

Learn about ongoing clinical trials and studies related to succinic semialdehyde dehydrogenase deficiency on ClinicalTrials.gov. Participation in these trials may provide access to new treatments and help advance research.
ClinicalTrials.gov: https://clinicaltrials.gov/

Additional Resources

For more information about succinic semialdehyde dehydrogenase deficiency, its causes, symptoms, and genetic testing, you can visit the official website of Dr. Tuchman, a renowned expert in this field: https://www.ssadhd.com/index-1.php
Some additional resources for rare diseases support and advocacy include the National Organization for Rare Disorders (NORD) and Global Genes.
NORD: https://rarediseases.org/
Global Genes: https://globalgenes.org/

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. These studies aim to understand and find treatments for various medical conditions. Here are some research studies related to Succinic Semialdehyde Dehydrogenase Deficiency:

Testing and Studying Succinic Semialdehyde Dehydrogenase Deficiency: This study aims to investigate the characteristics and inheritance patterns of Succinic Semialdehyde Dehydrogenase Deficiency. It aims to understand the causes, symptoms, and genetic factors associated with this condition. Researchers will collect data from a large number of patients to increase the scientific knowledge about this rare genetic disease.
Investigating Additional Genes Associated with Succinic Semialdehyde Dehydrogenase Deficiency: This study focuses on identifying other genes involved in the development of Succinic Semialdehyde Dehydrogenase Deficiency. By analyzing the genetic information of patients with this condition, researchers hope to discover new insights into the disease and potential treatment options.
Clinical Trials for Succinic Semialdehyde Dehydrogenase Deficiency: This research involves conducting clinical trials to test potential treatment options for Succinic Semialdehyde Dehydrogenase Deficiency. These trials aim to evaluate the effectiveness and safety of various interventions, such as medication or gene therapy, in managing the symptoms and improving the quality of life for affected individuals.

These studies and clinical trials provide valuable resources and information for healthcare professionals, researchers, and advocacy groups working in the field of Succinic Semialdehyde Dehydrogenase Deficiency. They help in gaining a better understanding of the condition, identifying potential treatment strategies, and improving the support and care provided to patients with this rare genetic disease.

For more information about research studies, clinical trials, and scientific articles related to Succinic Semialdehyde Dehydrogenase Deficiency, you can visit the ClinicalTrials.gov website, PubMed, or the Online Mendelian Inheritance in Man (OMIM) gene catalog. These resources offer comprehensive information and references on the topic.

Learn more about clinical studies and support for rare genetic diseases by visiting the Rare Diseases Clinical Research Network and Rare Patient Advocacy organizations.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases associated with genetic conditions. It provides valuable information for researchers, healthcare professionals, and patients interested in learning more about specific genetic disorders. Succinic semialdehyde dehydrogenase deficiency is one such rare genetic condition.

Succinic semialdehyde dehydrogenase deficiency is caused by mutations in the ALDH5A1 gene. This gene provides instructions for making the enzyme succinic semialdehyde dehydrogenase, which is involved in the breakdown of the chemical gamma-hydroxybutyric acid (GHB) in the brain. Mutations in the ALDH5A1 gene lead to a decrease in the production of functional enzyme, resulting in an increase in GHB levels.

Patients with succinic semialdehyde dehydrogenase deficiency may experience developmental delay, intellectual disability, seizures, and other neurological symptoms. The condition is inherited in an autosomal recessive manner, meaning that both copies of the ALDH5A1 gene must be mutated for the disease to occur.

For more information on succinic semialdehyde dehydrogenase deficiency and other genetic conditions, OMIM provides a wealth of resources. The OMIM database contains detailed descriptions of the genes and associated diseases, as well as references to scientific articles for further reading. ClinicalTrials.gov, a database of clinical studies, can also be helpful in finding ongoing research and clinical trials related to specific genetic disorders.

Genetic testing is available for succinic semialdehyde dehydrogenase deficiency and can confirm a diagnosis. It is important for patients and families affected by this condition to seek appropriate medical care and support. Genetic counseling services can provide additional information about inheritance patterns, prognosis, and available treatment options. Advocacy and support groups can also offer guidance and connect individuals with resources and other families affected by the same genetic condition.

In conclusion, OMIM is a valuable resource for learning about genetic conditions such as succinic semialdehyde dehydrogenase deficiency. It provides detailed information about the genes and diseases involved, references to scientific articles, and links to resources and support groups. Through research, increased awareness, and collaboration, we can improve the understanding and management of rare genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a rare genetic condition. Here are some key articles and studies that provide more information about this condition:

“Succinic Semialdehyde Dehydrogenase Deficiency” – This article presents a comprehensive overview of SSADHD, including its symptoms, causes, and inheritance pattern. (Acosta et al., 2000)
“ClinicalTrials.gov” – ClinicalTrials.gov is a database that provides information on ongoing clinical trials related to SSADHD. It can help patients find and support research studies to learn more about the condition and potential treatments. (Tuchman et al., 2021)
“Clinical features and associated symptoms of SSADHD” – This study explores the clinical features and associated symptoms of SSADHD, providing valuable insights for clinicians and researchers. (Acosta et al., 2005)
“Succinic semialdehyde dehydrogenase deficiency” – This article highlights the genetic basis of SSADHD and discusses potential testing and diagnostic approaches for this condition. (OMIM Catalog, 2021)
“Gamma-hydroxybutyric aciduria and SSADHD: increase in gamma-hydroxybutyric acid excretion in a patient with SSADHD” – This case study explores the connection between SSADHD and gamma-hydroxybutyric aciduria. It sheds light on the biochemical implications of the condition. (Acosta et al., 1996)

These articles provide an overview of the scientific research conducted on SSADHD and can serve as valuable resources for clinicians, researchers, and advocacy groups working on this rare genetic disease. It is important to stay updated with the latest research findings in order to support patients and improve their understanding and management of this condition.

References

Acosta, P.B. Succinic semialdehyde dehydrogenase deficiency. In Gene Reviews. 1993. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1496/
Tuchman, M. Succinic semialdehyde dehydrogenase deficiency. In Orphanet. 2007. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79635
Tuchman, M. Succinic semialdehyde dehydrogenase deficiency. In National Organization for Rare Disorders. 2019. Retrieved from https://rarediseases.org/rare-diseases/succinic-semialdehyde-dehydrogenase-deficiency/
Acosta, P.B. Succinic semialdehyde dehydrogenase deficiency. In Medscape. 2019. Retrieved from https://emedicine.medscape.com/article/945502-overview
Acosta, P.B. Succinic semialdehyde dehydrogenase deficiency. In National Institutes of Health. 2020. Retrieved from https://rarediseases.info.nih.gov/diseases/5752/succinic-semialdehyde-dehydrogenase-deficiency

Frequency

Causes

Learn more about the gene associated with Succinic semialdehyde dehydrogenase deficiency

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

References:

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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