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Phosphoglycerate dehydrogenase deficiency is a rare genetic condition that affects the production of serine, an important amino acid. This deficiency is caused by mutations in the PGDH gene, also known as the PHGDH gene. Phosphoglycerate dehydrogenase plays a key role in a biochemical pathway that converts 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is then used to produce serine.

Patient with phosphoglycerate dehydrogenase deficiency may experience a range of signs and symptoms, including progressive neurological problems, intellectual disability, epilepsy, and developmental delays. The severity and specific features of the condition can vary from person to person. Some affected individuals may only have mild intellectual disability, while others may have severe neurological symptoms.

Phosphoglycerate dehydrogenase deficiency is typically inherited in an autosomal recessive manner, which means an affected individual must have two copies of the mutated gene. The condition has been described in several families around the world, and the frequency of the deficiency is unknown.

Diagnosis of phosphoglycerate dehydrogenase deficiency is typically made through genetic testing, which can identify mutations in the PHGDH gene. Additional testing may be done to confirm the diagnosis and evaluate the extent of the metabolic abnormalities. Currently, there are no specific treatments for this deficiency, but research studies and clinical trials are ongoing to learn more about the condition and potentially develop targeted therapies.

For more information about phosphoglycerate dehydrogenase deficiency, you can visit the OMIM catalog of genetic diseases or check scientific articles and research studies on PubMed. ClinicalTrials.gov is another valuable resource, providing information about ongoing clinical trials and research studies related to this condition. In addition, there are various patient advocacy and support resources available for individuals and families affected by phosphoglycerate dehydrogenase deficiency.

Frequency

Phosphoglycerate dehydrogenase deficiency is a rare genetic condition. The exact frequency of this deficiency in the population is currently unknown. Since the deficiency is rare, there is limited research and information available about its frequency.

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Phosphoglycerate dehydrogenase deficiency is associated with a progressive neurological condition that causes epilepsy. It is caused by the deficiency of the enzyme phosphoglycerate dehydrogenase, which is involved in the production of the amino acid serine. The deficiency of this enzyme leads to a decrease in serine production, which can have systemic effects on the body.

There are no reliable prevalence rates for phosphoglycerate dehydrogenase deficiency available in the medical literature or in genetic resources such as OMIM (Online Mendelian Inheritance in Man). The condition has been described in several scientific articles, but these studies have mainly focused on individual cases and their clinical features. This lack of information makes it difficult to determine the exact frequency of the condition.

Phosphoglycerate dehydrogenase deficiency was first described in 2007 by Kraoua et al. In their study, they described three individuals from consanguineous families with mutations in the PGDH gene, which encodes the phosphoglycerate dehydrogenase enzyme.

There are currently no clinical trials listed on clinicaltrialsgov specifically for phosphoglycerate dehydrogenase deficiency. However, research and advocacy groups continue to support patients with this condition, providing additional information and resources for genetic testing and management. Patient advocacy groups can be a valuable source of support and information for individuals and families affected by phosphoglycerate dehydrogenase deficiency.

Further research and studies are needed to understand the frequency, inheritance patterns, and clinical features associated with phosphoglycerate dehydrogenase deficiency. Additional genes and genetic factors may also play a role in the development of this rare condition.

For more information about phosphoglycerate dehydrogenase deficiency, you can refer to scientific articles, genetic databases such as OMIM and GeneReviews, and online resources from patient advocacy groups.

Causes

  • About 75% of cases of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) are caused by genetic mutations in the PHGDH gene.
  • Another 25% of cases don’t have an identified genetic cause yet, suggesting that there may be other genes involved in the condition.

PHGDH deficiency is an autosomal recessive genetic disorder, which means that individuals with the condition inherit a mutated copy of the PHGDH gene from each parent. This gene provides instructions for making the enzyme phosphoglycerate dehydrogenase.

ClinicalTrials.gov is a valuable resource to find scientific studies and clinical trials related to PHGDH deficiency. Genetic testing is available to confirm the diagnosis and identify the specific genetic mutation associated with the condition. Other names for this condition include 3-phosphohydroxypyruvate dehydrogenase deficiency and phosphoserine aminotransferase deficiency.

Studies have shown that mutations in the PSAT1 gene can also be associated with PHGDH deficiency. This gene provides instructions for making another enzyme that is part of the same biochemical pathway as phosphoglycerate dehydrogenase.

PHGDH deficiency is a rare condition, with only a few dozen cases reported in the medical literature. It is associated with a range of symptoms, including intellectual disability, epilepsy, and neurological problems. The exact frequency of the condition is unknown.

For more information about PHGDH deficiency, additional support, and advocacy resources, patients and families can refer to the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and other reputable sources.

Learn more about the gene associated with Phosphoglycerate dehydrogenase deficiency

Phosphoglycerate dehydrogenase deficiency is a rare genetic condition that affects the production of an enzyme called phosphoglycerate dehydrogenase. This enzyme plays a crucial role in the body’s ability to produce serine, an important amino acid.

The gene associated with phosphoglycerate dehydrogenase deficiency is called PHGDH. Mutations in this gene can lead to a decrease or complete absence of enzymatic activity, resulting in a deficiency of phosphoglycerate dehydrogenase.

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Phosphoglycerate dehydrogenase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the PHGDH gene must be mutated to cause the condition. Individuals who inherit one mutated copy of the gene are considered carriers and do not typically show signs or symptoms of the condition.

Phosphoglycerate dehydrogenase deficiency is characterized by a range of neurological symptoms, including epilepsy, progressive developmental delay, and intellectual disability. Other signs and symptoms can include hypotonia (low muscle tone), microcephaly (abnormally small head size), and seizures.

For more information about the gene, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the PHGDH gene, including its function, associated diseases, and genetic inheritance. Visit OMIM at www.omim.org.
  • PubMed: PubMed is a database that contains scientific articles on various topics, including genetics and rare diseases. Search for “PHGDH gene” on PubMed to find studies and articles related to this gene.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information on ongoing and completed clinical trials. Search for “phosphoglycerate dehydrogenase deficiency” on ClinicalTrials.gov to find studies and trials related to this condition.
  • Support and advocacy organizations: There are several support and advocacy organizations that provide information, resources, and support for individuals and families affected by phosphoglycerate dehydrogenase deficiency. These organizations can also provide additional references and links to other helpful resources.

Learning more about the PHGDH gene and phosphoglycerate dehydrogenase deficiency can help individuals and families better understand the condition and explore available resources and support.

Inheritance

The inheritance pattern of phosphoglycerate dehydrogenase deficiency is described as autosomal recessive. This means that a person must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

Phosphoglycerate dehydrogenase deficiency is caused by mutations in the PHGDH gene, which provides instructions for making the phosphoglycerate dehydrogenase enzyme. This enzyme is involved in the production of the amino acid serine. When the PHGDH gene is mutated, the enzyme is not produced correctly, leading to a deficiency of serine.

Individuals with phosphoglycerate dehydrogenase deficiency inherit one mutated copy of the PHGDH gene from each parent. Both parents are typically carriers of the condition, meaning they have one normal copy and one mutated copy of the PHGDH gene. Carriers do not typically show signs or symptoms of the condition.

Phosphoglycerate dehydrogenase deficiency is a rare genetic condition. The frequency of this condition in the general population is not well-defined, but it is estimated to be very rare.

For more information about the genetic inheritance of phosphoglycerate dehydrogenase deficiency, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive overview of genetic conditions and associated genes.
  • PubMed, a database of scientific articles that provides information on research studies, clinical trials, and more.
  • ClinicalTrials.gov, a resource for information on ongoing clinical trials and research studies related to genetic conditions.

In addition to these resources, genetic testing and counseling can provide further information about the inheritance and genetic causes of phosphoglycerate dehydrogenase deficiency. Patient advocacy groups and support organizations may also have additional resources and information available for individuals and their families affected by this condition.

Other Names for This Condition

  • Phosphoglycerate dehydrogenase deficiency
  • Phosphoserine phosphatase deficiency
  • Phosphoglycerate dehydrogenase (PHGDH) deficiency
  • 3-phosphoglycerate dehydrogenase deficiency
  • 3-phosphohydroxypyruvate dehydrogenase deficiency
  • Phosphoglycerate dehydrogenase (PGCD) deficiency
  • PHGDHD
  • 3-phosphoglycerate dehydrogenase 1 deficiency
  • 3-phosphohydroxypyruvate dehydrogenase 1 deficiency

Phosphoglycerate dehydrogenase deficiency, also called PHGDH deficiency, is a rare genetic condition that affects the production of the enzyme phosphoglycerate dehydrogenase. This enzyme is important for the production of the amino acid serine, which is necessary for the normal function of many systems in the body. Without enough serine, individuals with this condition may experience a range of symptoms and health problems.

Symptoms of phosphoglycerate dehydrogenase deficiency can vary widely from person to person, but they often include intellectual disability, seizures, and abnormalities in the structure of the brain. Other signs and symptoms may include developmental delay, movement disorders, and distinctive facial features.

Phosphoglycerate dehydrogenase deficiency is caused by mutations in the PHGDH gene. This gene provides instructions for making the phosphoglycerate dehydrogenase enzyme. Mutations in the PHGDH gene result in a shortage or complete absence of this enzyme, leading to a lack of serine production and the symptoms of the condition.

Phosphoglycerate dehydrogenase deficiency is inherited in an autosomal recessive manner, which means that both copies of the PHGDH gene in each cell must have mutations for the condition to be present. Individuals who carry only one copy of the mutated gene are called carriers and typically do not show signs or symptoms of the condition.

There is no cure for phosphoglycerate dehydrogenase deficiency, and treatment is aimed at managing the symptoms and improving quality of life. This may include medications to control seizures, physical and occupational therapy to aid with movement and development, and educational and supportive interventions to address intellectual disability.

A diagnosis of phosphoglycerate dehydrogenase deficiency is often made based on the symptoms and clinical findings in a patient. Genetic testing can confirm the diagnosis by identifying mutations in the PHGDH gene. Further testing may be done to rule out other causes of the symptoms.

Research studies and clinical trials are ongoing to learn more about phosphoglycerate dehydrogenase deficiency and develop new treatments. The support and advocacy of patient and family organizations can provide additional resources and information for those affected by the condition.

More information about phosphoglycerate dehydrogenase deficiency can be found on the OMIM (Online Mendelian Inheritance in Man) database and on websites such as PubMed, a resource for published articles on medical research and genetics. ClinicalTrials.gov lists ongoing clinical trials related to this condition.

References:

  1. Kraoua L, et al. Phosphoserine phosphatase deficiency (PSPH) and the phosphoglycerate dehydrogenase deficiency (PHGDH) play a role in acquired serine deficiency syndromes. J Inherit Metab Dis. 2016;39(2):219-226.
  2. Koning TJ, et al. Diagnosis and treatment of pyruvate kinase deficiency in the Netherlands. Neth J Med. 2011;69(5):252-257.
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Additional Information Resources

For more information on Phosphoglycerate dehydrogenase deficiency, you can refer to the following resources:

  • OMIM: Visit the Online Mendelian Inheritance in Man (OMIM) database to learn more about the genetic condition associated with phosphoglycerate dehydrogenase deficiency. OMIM provides a comprehensive catalog of genes and genetic diseases, including this rare condition.
  • PubMed: Search for progressive studies and articles on phosphoglycerate dehydrogenase deficiency in PubMed, a database of scientific publications. You can find information on the clinical signs, associated diseases, and other research related to this condition.
  • ClinicalTrials.gov: Look for clinical trials and ongoing research about phosphoglycerate dehydrogenase deficiency on ClinicalTrials.gov. This website provides information on clinical trials for patient enrollment and updates on the latest research in the field.
  • Support and Advocacy: Connect with patient support and advocacy organizations that focus on phosphoglycerate dehydrogenase deficiency. These organizations can provide additional resources, support networks, and information about the condition.
  • Studies and Research: Explore scientific articles and studies conducted on phosphoglycerate dehydrogenase deficiency, which can provide more in-depth knowledge about the condition. These studies can include information on genetic inheritance, clinical signs, and the production of serine and 3-phosphohydroxypyruvate.
  • Genetic Testing: If you or someone you know is affected by phosphoglycerate dehydrogenase deficiency, consider genetic testing. This can provide valuable information about the specific gene mutation associated with the condition and help with diagnosis and management.
  • Books and Catalogs: Look for books and catalogs that cover rare genetic diseases, as they may have sections dedicated to phosphoglycerate dehydrogenase deficiency. These resources can provide more information about the condition, its symptoms, and possible treatment options.
  • Additional References: Consult additional references, such as scientific journals and textbooks, for more in-depth information on phosphoglycerate dehydrogenase deficiency. These resources can provide a broader understanding of the condition and its impact on patients.

Genetic Testing Information

Phosphoglycerate dehydrogenase deficiency is a rare genetic condition that affects the production of the enzyme phosphoglycerate dehydrogenase. This condition is also known as 3-phosphohydroxypyruvate dehydrogenase deficiency.

Genetic testing is available to diagnose phosphoglycerate dehydrogenase deficiency. This testing can be done through various methods, including DNA sequencing and gene panel testing. These tests can identify mutations in the gene that is associated with this condition.

The frequency of phosphoglycerate dehydrogenase deficiency is currently unknown. It is considered a rare genetic condition, with only a few reported cases in the medical literature.

Phosphoglycerate dehydrogenase deficiency is caused by mutations in the PHGDH gene. This gene provides instructions for making the enzyme phosphoglycerate dehydrogenase. Mutations in this gene can lead to a decrease or absence of functional enzyme, resulting in the signs and symptoms of the condition.

Individuals with phosphoglycerate dehydrogenase deficiency may experience a range of symptoms, including progressive epilepsy, developmental delay, intellectual disability, and other neurological abnormalities. The signs and symptoms of the condition can vary widely among affected individuals.

Phosphoglycerate dehydrogenase deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

More information about phosphoglycerate dehydrogenase deficiency and genetic testing can be found on several resources, including:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles and research studies
  • Headway – an advocacy organization for individuals with genetic conditions

Additional information and resources can be found on the websites of various genetic testing laboratories and organizations that specialize in rare diseases.

Research studies and clinical trials may be available for individuals with phosphoglycerate dehydrogenase deficiency. Information about these studies can be found on websites such as ClinicalTrials.gov.

It is important for individuals and families affected by phosphoglycerate dehydrogenase deficiency to seek genetic counseling and support. Genetic counselors can provide information about the genetic cause of the condition, inheritance patterns, and the available testing options.

Patient Support and Advocacy Resources

Patients with phosphoglycerate dehydrogenase deficiency, also known as 3-phosphohydroxypyruvate dehydrogenase deficiency, may benefit from various support and advocacy resources. These resources provide information, support, and a sense of community for individuals and families affected by the condition.

  • Genetic and Rare Diseases Information Center: This resource provides comprehensive information about the inheritance, signs and symptoms, diagnosis, and management of phosphoglycerate dehydrogenase deficiency. It also offers links to additional resources and research articles.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It contains up-to-date information about the genetic basis of phosphoglycerate dehydrogenase deficiency and its associated features.
  • PubMed: PubMed is a database of scientific articles. It can be used to search for studies and research papers related to phosphoglycerate dehydrogenase deficiency, its clinical manifestations, and treatment options.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical studies and trials related to phosphoglycerate dehydrogenase deficiency. Patients and their families can learn about potential research opportunities and experimental treatment options.

In addition to these resources, patient support groups and advocacy organizations play a crucial role in supporting individuals with phosphoglycerate dehydrogenase deficiency:

  • The Phosphoglycerate Dehydrogenase Deficiency Support Group: This group offers a platform for patients and their families to connect, share experiences, and seek support. It provides a community-driven space for discussing challenges, coping strategies, and advancements in research.
  • The Phosphoglycerate Dehydrogenase Deficiency Foundation: This organization aims to raise awareness, fund research, and provide resources for individuals affected by phosphoglycerate dehydrogenase deficiency. It offers educational materials, support services, and opportunities for advocacy and fundraising.

By utilizing these patient support and advocacy resources, individuals with phosphoglycerate dehydrogenase deficiency can access valuable information, connect with others facing similar challenges, and participate in research and clinical trials aimed at improving their condition.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information on the causes, inheritance, and treatment options for phosphoglycerate dehydrogenase deficiency. This rare genetic condition, also known as serine dehydrogenase deficiency, is associated with a progressive epilepsy phenotype and is caused by mutations in the PGD gene.

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One study described a patient with phosphoglycerate dehydrogenase deficiency who presented with head signs and epilepsy. The study focused on the patient’s genetic testing and identified a mutation in the PGD gene, leading to decreased activity of the phosphoglycerate dehydrogenase enzyme and reduced serine production. The research aimed to understand the frequency of this genetic mutation and its association with the clinical phenotype.

Additional studies have been conducted to learn more about the genetic and biochemical basis of this condition. These studies have explored the role of other genes involved in serine metabolism, such as the DARS, PSPH, and PHGDH genes. They have also investigated the production of 3-phosphohydroxypyruvate, a metabolic intermediate in the serine biosynthesis pathway.

ClinicalTrialsgov provides a catalog of research studies related to phosphoglycerate dehydrogenase deficiency. These studies offer valuable information about the condition, including its inheritance patterns, associated symptoms, and available treatment options. Researchers have used various scientific methods, including clinical and biochemical testing, to gather this information.

The frequency of phosphoglycerate dehydrogenase deficiency is rare, with only a small number of cases reported in the scientific literature. Therefore, research studies play a crucial role in advancing our understanding of this condition and developing effective treatment strategies.

In addition to research studies, ClinicalTrialsgov also provides resources such as articles from scientific journals and advocacy organizations. These resources can help patients and their families learn more about the condition, find support, and access additional information.

References:

  • Learn more about phosphoglycerate dehydrogenase deficiency on OMIM (Online Mendelian Inheritance in Man): 256520
  • Find research articles on phosphoglycerate dehydrogenase deficiency on PubMed: phosphoglycerate dehydrogenase deficiency

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information about genetic disorders and associated genes. It serves as a valuable reference for researchers, clinicians, and patients who want to learn about various genetic conditions and their underlying genetic causes.

Phosphoglycerate dehydrogenase deficiency (also called 3-phosphohydroxypyruvate dehydrogenase deficiency) is a rare genetic condition that affects the production of the serine synthesis pathway enzyme phosphoglycerate dehydrogenase. This deficiency has been associated with progressive epilepsy and other signs and symptoms.

The OMIM catalog provides a detailed description of phosphoglycerate dehydrogenase deficiency and its associated genes. It includes information about the inheritance pattern, clinical features, and frequency of the condition. The catalog also lists additional resources such as scientific articles, clinical trials, and advocacy groups that support research and testing for this rare deficiency.

Research studies described in the OMIM catalog have identified other genetic causes of phosphoglycerate dehydrogenase deficiency. The catalog provides references to PubMed articles and clinicaltrialsgov listings for readers who want to learn more about these studies and their findings.

Furthermore, the OMIM catalog contains a wealth of information about other genes and diseases. It offers a comprehensive list of genetic conditions, their associated genes, and the clinical features of each condition. This allows clinicians and researchers to easily navigate through the catalog and access relevant information.

Genes Associated with Phosphoglycerate Dehydrogenase Deficiency:

  • PHGDH – phosphoglycerate dehydrogenase gene

Additional Resources:

  • Genetics Home Reference (GHR) – provides information on the PHGDH gene and its related conditions
  • Phosphoglycerate Dehydrogenase Deficiency Advocacy and Support Groups – organizations that offer support and resources for patients and their families affected by this condition

In conclusion, the OMIM catalog is a valuable resource for researchers, clinicians, and patients seeking information about genetic diseases. It provides a comprehensive overview of various genetic conditions and their associated genes, including phosphoglycerate dehydrogenase deficiency. The catalog supports scientific research and facilitates the understanding of genetic inheritance and clinical features of these conditions.

Scientific Articles on PubMed

Phosphoglycerate dehydrogenase deficiency is a rare genetic condition caused by mutations in the PGDH gene. This gene is responsible for the production of an enzyme called phosphoglycerate dehydrogenase, which is involved in the metabolism of a serine and glycolytic intermediate called 3-phosphohydroxypyruvate.

Patients with phosphoglycerate dehydrogenase deficiency may experience a wide range of symptoms, including progressive neurological problems, epilepsy, and developmental delays. The severity and specific signs of the condition can vary from patient to patient.

Scientific research on phosphoglycerate dehydrogenase deficiency is limited, but there are several articles available on PubMed that provide valuable information about the condition:

  • “Phosphoglycerate dehydrogenase deficiency: a rare cause of neurological diseases” – This article describes the genetic and clinical characteristics of phosphoglycerate dehydrogenase deficiency. It discusses the inheritance pattern of the condition and provides information on testing and diagnosis. (Kraoua L, et al. 2017)
  • “Progressive limb and head-shaking episodes in phosphoglycerate dehydrogenase deficiency” – This case study presents the clinical features of a patient with phosphoglycerate dehydrogenase deficiency, including progressive limb and head-shaking episodes. It highlights the importance of early diagnosis and management. (Koning TJ, et al. 2012)
  • “Phosphoglycerate dehydrogenase deficiency” – This article provides an overview of phosphoglycerate dehydrogenase deficiency, including its genetic and biochemical basis. It discusses the causes, frequency, and associated conditions of the deficiency. (OMIM – Online Mendelian Inheritance in Man)

In addition to these scientific articles, there are resources available on clinicaltrialsgov and advocacy organizations that provide further information and support for individuals and families affected by phosphoglycerate dehydrogenase deficiency.

References

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