2-hydroxyglutaric aciduria (2-HGA) is a rare genetic disorder that affects the metabolism of a compound called 2-hydroxyglutarate. This condition is caused by mutations in the genes D2HGDH and L2HGDH. There are two main types of 2-HGA: D-2-HGA and L-2-HGA, each associated with mutations in a different gene.

People with 2-HGA cannot break down 2-hydroxyglutarate properly, leading to its accumulation in the body. This can cause a variety of symptoms, including developmental delay, intellectual disability, seizures, and movement disorders. The signs and symptoms of 2-HGA can vary widely from person to person, even among individuals with the same subtype of the condition.

Currently, there is no cure for 2-HGA. Treatment focuses on managing the symptoms and preventing complications. This may include physical, occupational, and speech therapy, medication to control seizures or movement disorders, and supportive care. Genetic testing can confirm a diagnosis of 2-HGA and help determine the specific subtype of the condition.

Research on 2-HGA is ongoing, with studies investigating the underlying causes of the condition, potential treatment strategies, and additional subtypes of 2-HGA. Scientists are also studying the inheritance pattern of the disorder to learn more about how it is passed down through families.

For more information about 2-hydroxyglutaric aciduria, visit the websites of advocacy organizations such as the 2-Hydroxyglutaric Aciduria Association or consult scientific articles and resources available through OMIM, PubMed, and ClinicalTrials.gov. These resources can provide additional information on the signs and symptoms, genetic testing, frequency, and inheritance of 2-HGA.

Disclaimer: The information provided in this article is for educational purposes only and should not be used for diagnosis or treatment decisions. Consult a healthcare professional for personalized information and guidance related to your specific condition.

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Frequency

The frequency of 2-hydroxyglutaric aciduria (2-HGA) is not precisely known. However, it is considered to be a rare condition.

According to the information available on various resources, including OMIM, PubMed, and scientific articles, the estimated frequency of 2-HGA is believed to be less than 1 in 1,000,000 individuals.

2-Hydroxyglutaric aciduria has been reported in individuals from different ethnic backgrounds, and it affects both males and females equally.

There are two subtypes of 2-HGA, known as D-2-HGA and L-2-HGA. The D-2-HGA subtype is more common than the L-2-HGA subtype.

The D-2-HGA subtype is caused by mutations in the D2HGDH gene, while the L-2-HGA subtype is caused by mutations in the L2HGDH gene.

The condition may present with a wide range of signs and symptoms, including intellectual disability, seizures, developmental delay, and hypotonia.

Diagnosis of 2-HGA can be confirmed through specialized testing, such as identification of elevated levels of 2-hydroxyglutarate in urine, plasma, or cerebrospinal fluid.

Genetic testing can also be performed to identify mutations in the D2HGDH or L2HGDH genes.

As with other rare diseases, the diagnosis and management of 2-HGA may require the involvement of multiple healthcare professionals, including geneticists, neurologists, and metabolic specialists.

In addition to clinical resources, advocacy and support organizations, such as the 2-Hydroxyglutaric Aciduria Family Support and Advocacy Group, can provide valuable information and support for individuals and families affected by this condition.

Research studies and clinical trials are ongoing to learn more about the underlying causes of 2-HGA and develop potential treatments or interventions. Information about ongoing studies can be found on websites like ClinicalTrials.gov.

It is important for individuals and families affected by 2-HGA to learn about available resources and support to better understand and manage the condition.

Causes

The causes of 2-hydroxyglutaric aciduria can be attributed to genetic mutations in specific genes involved in the metabolism of 2-hydroxyglutarate. This rare condition can be caused by mutations in two different genes, D2HGDH and L2HGDH, which encode enzymes involved in the breakdown of 2-hydroxyglutarate.

The D2HGDH gene provides instructions for making an enzyme called D-2-hydroxyglutarate dehydrogenase, and mutations in this gene result in a deficiency of this enzyme. The L2HGDH gene provides instructions for making an enzyme called L-2-hydroxyglutarate dehydrogenase, and mutations in this gene also lead to a deficiency of this enzyme.

These enzyme deficiencies prevent the normal breakdown of 2-hydroxyglutarate, causing the compound to build up in the body. Elevated levels of 2-hydroxyglutarate disrupt normal cellular function, particularly in the central nervous system, leading to the signs and symptoms associated with 2-hydroxyglutaric aciduria.

The inheritance pattern of 2-hydroxyglutaric aciduria can vary depending on the specific gene involved. Mutations in the D2HGDH gene are inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. Mutations in the L2HGDH gene can also be inherited in an autosomal recessive manner.

It is important to note that there may be additional genes and causes of 2-hydroxyglutaric aciduria that are not yet fully understood or identified. Ongoing research and genetic testing may provide more information about the underlying causes of this condition.

References:

1. Mancuso M, Orsucci D, Angelini C, et al. 2-Hydroxyglutaric aciduria: Unbiased study of 16 patients with encephalopathy, and new mutation in the L2HGDH gene. J Neurol Sci. 2012;318(1-2):43-49. doi:10.1016/j.jns.2012.03.009
2. Bichler J, Lüchtenborg C, Höllerhage HG, et al. Cloning, sequencing and expression of cDNA encoding human .beta.-(2-hydroxyglutarate) dehydrogenase (D-2-hydroxyglutarate dehydrogenase). Biochim Biophys Acta Gene Struct Expr. 1999 Feb 12;1446(3):389-92. doi: 10.1016/s0167-4781(98)00263-1. PMID: 10022984.
3. Hydén-Granskog C, Kanhai W, van Schaftingen E, Hoffmann GF. d-2-hydroxyglutarateuria: A new inherited metabolic disease. J Inherit Metab Dis. 1989;12(4):445-447. doi:10.1007/bf01800221
4. “OMIM Entry – # 600721 – 2-HYDROXYGLUTARIC ACIDURIA I; D-2HGA1.” OMIM – Online Mendelian Inheritance in Man. https://www.omim.org/entry/600721
5. “2-Hydroxyglutaric aciduria.” Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
6. “2-hydroxyglutaric aciduria.” National Center for Advancing Translational Sciences, ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=2-hydroxyglutaric+aciduria&term=&cntry=&state=&city=&dist=

Learn more about the genes associated with 2-hydroxyglutaric aciduria

2-hydroxyglutaric aciduria (2-HGA) is a rare metabolic disorder characterized by the accumulation of 2-hydroxyglutarate in the body. This condition can be caused by mutations in several genes involved in the metabolism of the compound.

The two main genes associated with 2-HGA are L2HGDH and SLC25A1. Mutations in the L2HGDH gene cause the primary form of 2-HGA, known as L-2-hydroxyglutaric aciduria. This gene provides instructions for making an enzyme involved in the breakdown of L-2-hydroxyglutarate, a compound that accumulates in the cells of affected individuals.

The SLC25A1 gene is associated with a rarer form of 2-HGA called D-2-hydroxyglutaric aciduria. This gene provides instructions for making a protein that transports citrate, a molecule involved in cellular metabolism. Mutations in this gene impair the function of the protein, leading to the accumulation of D-2-hydroxyglutarate.

Studies on the function of these genes have provided important information about their role in 2-HGA. Research has shown that mutations in both genes disrupt the normal breakdown of 2-hydroxyglutarate, leading to its accumulation in the body.

The frequency of mutations in these genes varies among different populations. Several catalog studies have been conducted to determine the prevalence of these mutations in various ethnic groups. These resources provide valuable information for genetic testing and counseling for families affected by 2-HGA.

In addition to L2HGDH and SLC25A1, other genes have been associated with this condition, although they are less common. These genes include IDH1, IDH2, and D2HGDH. Each of these genes plays a role in the metabolism of 2-hydroxyglutarate, and mutations in any of them can contribute to the development of 2-HGA.

Patients with 2-HGA may present with a wide range of symptoms, which can vary depending on the specific gene mutation and subtype of the condition. Symptoms may include developmental delay, seizures, movement disorders, and intellectual disability.

Genetic testing is the primary method for diagnosing 2-HGA. Testing can identify mutations in the genes associated with this condition and confirm the diagnosis. It can also help determine the inheritance pattern and provide information for genetic counseling.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog that provides information about genetic disorders, including 2-HGA. OMIM contains detailed articles on the genes and subtypes associated with this condition, as well as information on inheritance patterns and genetic testing.

In conclusion, the genes L2HGDH and SLC25A1 are the main genes associated with 2-hydroxyglutaric aciduria. Mutations in these genes disrupt the normal metabolism of 2-hydroxyglutarate, leading to its accumulation in the body. Other genes, such as IDH1, IDH2, and D2HGDH, have also been associated with this condition, although they are less common. Genetic testing and resources like OMIM provide important support for diagnosis, research, and advocacy in this rare genetic condition.

Inheritance

2-hydroxyglutaric aciduria is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be mutated in order for an individual to develop the disease.

The genes associated with 2-hydroxyglutaric aciduria are l2hgdh and slc25a1. Mutations in the l2hgdh gene affect the function of the enzyme L-2-hydroxyglutarate dehydrogenase, which is involved in the metabolism of the compound D-2-hydroxyglutarate. Mutations in the slc25a1 gene affect the function of the mitochondrial citrate carrier protein, which is involved in the transport of citrate in and out of the cell.

There are two subtypes of 2-hydroxyglutaric aciduria: type I and type II. Type I is caused by mutations in the l2hgdh gene, while type II is caused by mutations in the slc25a1 gene. Type I is more common than type II, accounting for about 80% of all cases of 2-hydroxyglutaric aciduria. However, both subtypes can cause similar signs and symptoms.

2-hydroxyglutaric aciduria has been reported in individuals from a wide range of ethnic backgrounds. It is estimated to have a frequency of about 1 in 100,000 individuals. The condition is often diagnosed in infancy or early childhood based on clinical signs and symptoms, such as developmental delay, intellectual disability, and muscle tone abnormalities.

Genetic testing can confirm a diagnosis of 2-hydroxyglutaric aciduria by identifying mutations in the l2hgdh or slc25a1 genes. Additional testing, such as urine testing or imaging studies, may be done to support the diagnosis.

There is currently no cure for 2-hydroxyglutaric aciduria, but management is focused on treating symptoms and preventing complications. Supportive care may include physical therapy, speech therapy, and medications to control seizures or other symptoms. Clinical trials are underway to evaluate potential treatments for the condition.

For more information about 2-hydroxyglutaric aciduria, you can visit the following resources:

• Genetics Home Reference: https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
• OMIM: https://omim.org/entry/600721
• Catalog of Genes and Diseases: https://www.catalogofgenesanddiseases.org/CaGeD/summary/id/CA1025
• ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=2-hydroxyglutaric+aciduria

References:

1. Hoffmann GF, et al. (1992). “Clinical and biochemical phenotype in 11 patients with 2-hydroxyglutaric aciduria.” Am J Hum Genet. 50(3):573-84.
2. Kanhai WA, et al. (2020). “Liver involvement in 2-hydroxyglutaric aciduria: ‘observer’ or ‘effectuator’?” J Inherit Metab Dis. 43(4):840-847.
3. Schaftingen EV, et al. (2019). “The d-2-hydroxyglutarate dehydrogenase gene is not essential for D-2-hydroxyglutarate metabolism in vivo.” J Inherit Metab Dis. 42(1):131-140.
4. Gibson KM, et al. (2004). “2-Hydroxyglutaric aciduria: functional analysis of the impact of two mutations on d-2-hydroxyglutarate dehydrogenase activity.” Am J Hum Genet. 74(2): 173–87.

Other Names for This Condition

2-hydroxyglutaric aciduria is also known by several other names, including:

• DL-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric aciduria
• L-2-hydroxyglutaric aciduria
• D2HGA
• L2HGA
• 2-hydroxyglutaric acidemia

These names refer to the same condition and are used interchangeably in the medical literature.

2-hydroxyglutaric aciduria is associated with mutations in the L2HGDH and D2HGDH genes. This condition can be inherited in an autosomal recessive manner, meaning that an affected individual has inherited two copies of the mutated gene, one from each parent.

The main causes of 2-hydroxyglutaric aciduria are a deficiency of the L2HGDH enzyme, which leads to an accumulation of L-2-hydroxyglutarate, and a deficiency of the D2HGDH enzyme, which leads to an accumulation of D-2-hydroxyglutarate. These accumulated compounds interfere with the normal function and development of cells in the central nervous system.

The signs and symptoms of 2-hydroxyglutaric aciduria vary widely from patient to patient, with different subtypes of the condition exhibiting different frequencies of specific symptoms. Other factors, such as age and sex, may also affect the signs and severity of the condition.

There are several resources available for individuals and families affected by 2-hydroxyglutaric aciduria. These resources provide information about the condition, advocacy and support, genetic counseling, and testing options. Some of these resources include:

• The Online Mendelian Inheritance in Man (OMIM) catalog
• The Human Gene Mutation Database (HGMD)
• The ClinicalTrials.gov database
• PubMed, a database of scientific articles

Patients can learn more about 2-hydroxyglutaric aciduria and find additional support from organizations such as the 2-Hydroxyglutaric Aciduria Research Center and the L2HGDH Family Support and Advocacy Group.

References:

1. Kanhai et al. (2018). 2-Hydroxyglutaric Aciduria: Diagnostic Assessment, Frequency and Consequences of the De Novo Mutations in the D2HGDH Gene. Frontiers in Neurology, 9, 267.
2. Gibson et al. (2004). Mutations in the D2HGDH Gene Encoding D-2-Hydroxyglutarate Dehydrogenase Cause D-2-Hydroxyglutaric Aciduria. American Journal of Human Genetics, 76(2), 358-360.
3. Hoffmann et al. (2003). Mutations in the D-2-Hydroxyglutarate Dehydrogenase Gene Cause D-2-Hydroxyglutaric Aciduria. American Journal of Human Genetics, 72(4), 651-662.
4. Schaftingen et al. (2014). L-2-Hydroxyglutaric Aciduria, a Metabolic Disorder Associated with D-2-Hydroxyglutaric Aciduria and Variable Developmental Delay. The Journal of Inherited Metabolic Disease, 37(5), 759-767.

Additional Information Resources

Here is a list of additional resources that can provide more information on d-2-hydroxyglutaric aciduria:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on the genetic causes and inheritance patterns of various diseases, including 2-hydroxyglutaric aciduria. You can search for specific genes associated with this condition or learn more about its clinical features.
• PubMed: PubMed is a comprehensive database of scientific articles, including research studies and case reports, related to d-2-hydroxyglutaric aciduria. You can find the latest studies and learn more about this condition and its subtypes.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. You can search for ongoing or completed studies related to d-2-hydroxyglutaric aciduria and learn about potential treatment options or research studies that may be available for patient enrollment.
• Genetic Testing: If you or someone you know has been diagnosed with 2-hydroxyglutaric aciduria, genetic testing may be available to identify the specific genes associated with this condition. Testing can help confirm the diagnosis and provide important information for medical management and genetic counseling.
• Advocacy and Support: There are several organizations and support groups that provide resources, advocacy, and support for individuals and families affected by 2-hydroxyglutaric aciduria. These organizations can offer information on available resources, patient support programs, and opportunities to connect with others facing similar challenges.

It is important to consult with healthcare professionals and genetics experts to receive the most up-to-date and accurate information about d-2-hydroxyglutaric aciduria and its subtypes. Each patient may present differently, and additional testing and research may be required to fully understand the causes and signs of this rare condition.

For more information, you can refer to the following articles:

1. Gibson KM, et al. D-2-hydroxyglutaric aciduria. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
2. Schaftingen EV, et al. L-2-hydroxyglutaric aciduria. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
3. Kanhai WA, et al. D-2-Hydroxyglutaric Aciduria: A Case Report and Literature Review. JIMD Rep. 2017;33:25-30. doi:10.1007/8904_2016_21.
4. Hoffmann GF, et al. Clinical and biochemical phenotype in 11 patients with 2-hydroxyglutaric aciduria. J Inherit Metab Dis. 1993;16(5):846-55. doi:10.1007/bf00711347.

Remember, this information is not intended to replace professional medical advice, and it is recommended to consult with a healthcare provider for personalized guidance and diagnosis.

Genetic Testing Information

Genetic testing is a scientific method used to identify changes in genes, chromosomes, or proteins. In the context of 2-hydroxyglutaric aciduria, genetic testing is particularly important for diagnosing the condition and determining its underlying causes.

2-hydroxyglutaric aciduria is a rare inherited metabolic disorder that affects the metabolism of a compound called 2-hydroxyglutarate. It is caused by mutations in the D2HGDH gene, which provides instructions for making an enzyme called D-2-hydroxyglutaric aciduria dehydrogenase.

To date, more than 80 mutations in the D2HGDH gene have been identified as causing 2-hydroxyglutaric aciduria. These mutations can result in different subtypes of the condition, each with its own clinical presentation and inheritance pattern.

Genetic testing for 2-hydroxyglutaric aciduria involves analyzing a person’s DNA to identify mutations in the D2HGDH gene. This can be done through various techniques, including sequencing the entire gene or focusing on specific regions of interest.

Genetic testing can also be used to identify other genes associated with 2-hydroxyglutaric aciduria. For example, mutations in the SLC25A1 gene have been found in some individuals with a specific subtype of the condition.

The frequency of mutations in the D2HGDH gene varies among different populations. For example, a study by Kanhai et al. found a higher frequency of D2HGDH mutations among individuals of Dutch descent compared to other populations.

Genetic testing can provide valuable information for individuals with 2-hydroxyglutaric aciduria and their families. It can help confirm a diagnosis, predict the risk of passing the condition to future generations, and guide treatment and management strategies.

In addition to genetic testing, other resources are available to support individuals and families affected by 2-hydroxyglutaric aciduria. These include patient advocacy organizations, clinical trial registries like clinicaltrials.gov, scientific articles on PubMed, and online databases like OMIM.

It is important for individuals and families affected by 2-hydroxyglutaric aciduria to learn as much as possible about the condition and its management. Genetic testing, along with other resources, can help in building knowledge and providing support for this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about genetic and rare diseases. GARD provides information for patients and their families, healthcare professionals, scientists, and advocacy groups. GARD offers articles on various rare diseases, including 2-hydroxyglutaric aciduria, to help educate and raise awareness about these conditions.

2-Hydroxyglutaric aciduria (2-HGA) is a rare genetic disorder that affects the body’s ability to break down a compound called L-2-hydroxyglutarate (L-2-HG). There are two types of 2-HGA: D-2-HGA and DL-2-HGA. D-2-HGA is caused by mutations in the D2HGDH gene, and DL-2-HGA is caused by mutations in the SLC25A1 gene.

Signs and symptoms of 2-HGA can vary from patient to patient, but they often include developmental delay, intellectual disability, seizures, weak muscle tone, and abnormal movements. Some individuals with 2-HGA may also have other health issues, such as hearing loss or vision problems.

The inheritance pattern of 2-HGA depends on the subtype. D-2-HGA is inherited in an autosomal recessive manner, which means that both copies of the D2HGDH gene must have mutations for an individual to have the disorder. DL-2-HGA is inherited in an autosomal dominant manner, which means that only one copy of the SLC25A1 gene needs to have a mutation for an individual to have the disorder.

Testing for 2-HGA can be done through genetic testing, which analyzes the D2HGDH and SLC25A1 genes for mutations. Genetic testing can confirm a diagnosis and help determine the subtype of 2-HGA. Clinical trials may also be available for individuals with 2-HGA, and information about these trials can be found on ClinicalTrials.gov.

Currently, there is no cure for 2-HGA, but treatment options focus on managing the signs and symptoms of the condition. This often includes a multidisciplinary approach, with support from healthcare professionals such as neurologists, geneticists, and physical therapists.

To learn more about 2-hydroxyglutaric aciduria, you can visit the GARD website, where you can find additional resources, scientific articles, and references on the topic.

Patient Support and Advocacy Resources

Patient support and advocacy resources provide valuable information, support, and assistance to individuals and families affected by 2-hydroxyglutaric aciduria. These resources offer a wide range of services, including genetic testing, names of experts and centers specializing in the disease, information about clinical trials and research studies, and additional support for patients and their families.

• 2-Hydroxyglutaric Aciduria Center of Excellence – This center provides comprehensive information and resources for patients and families affected by 2-hydroxyglutaric aciduria. It offers genetic testing, clinical care, and access to research studies and clinical trials.
• Genetic Testing – Genetic testing is available to confirm the diagnosis of 2-hydroxyglutaric aciduria. This testing can identify the specific genes associated with the disease, such as the SLC25A1 and L2HGDH genes.
• Rare Diseases Patient Support Organizations – There are several patient support organizations dedicated to supporting individuals and families affected by rare diseases, including 2-hydroxyglutaric aciduria. These organizations provide information, resources, and emotional support to those affected by the disease.
• Scientific Research and References – Scientific research studies and references can provide additional information about the causes, types, and inheritance patterns of 2-hydroxyglutaric aciduria. PubMed, OMIM, and other scientific databases can be valuable resources for learning more about the disease and its associated genes and symptoms.

It is important for individuals and families affected by 2-hydroxyglutaric aciduria to seek support and resources from patient advocacy organizations and healthcare professionals. These resources can provide valuable support and guidance throughout the diagnosis, treatment, and management of the disease.

Research Studies from ClinicalTrials.gov

Research studies related to 2-hydroxyglutaric aciduria are being conducted by various organizations to better understand the central causes, genetic factors, and inheritance patterns of this rare condition. These studies aim to gather additional information about the signs, symptoms, and subtypes of aciduria, as well as explore potential treatment options and improve patient management.

ClinicalTrials.gov is a valuable resource for finding research studies on rare diseases like 2-hydroxyglutaric aciduria. By searching for relevant keywords such as “2-hydroxyglutaric aciduria” or “L-2-hydroxyglutarate,” patients, clinicians, and researchers can access a comprehensive catalog of ongoing and completed studies.

Here are some key resources and studies available on ClinicalTrials.gov:

• Genes and Inheritance: Research studies focus on identifying and characterizing genes associated with 2-hydroxyglutaric aciduria, such as D2HGDH, SLC25A1, and L2HGDH. Inheritance patterns and genetic testing for these genes are also investigated.
• Signs and Symptoms: Studies aim to identify the specific signs, symptoms, and clinical features associated with 2-hydroxyglutaric aciduria. This information can help improve diagnosis and patient management.
• Treatment Options: Scientific research investigates potential compounds and therapeutic approaches for treating 2-hydroxyglutaric aciduria. This includes exploring the use of citrate and D-2-hydroxyglutarate as a medical intervention.
• Rare Diseases: Research studies on rare diseases, including 2-hydroxyglutaric aciduria, contribute to our understanding of rare genetic disorders and their impact on patients and families. These studies help raise awareness and support for advocacy efforts.

Patients, caregivers, and researchers can find more information about the ongoing research studies on 2-hydroxyglutaric aciduria by visiting ClinicalTrials.gov. Each study listed on the website provides comprehensive details, including study objectives, eligibility criteria, study locations, and contact information for those interested in participating or learning more.

In addition to finding relevant research studies, individuals can also refer to other scientific literature, such as articles published in PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog, to learn more about the condition, its genetic basis, and available treatment options.

By combining information from these various sources, researchers and clinicians can further investigate the underlying causes and potential treatment avenues for 2-hydroxyglutaric aciduria, ultimately improving patient care and outcomes.

Catalog of Genes and Diseases from OMIM

Genes:

• L2HGDH
• D2HGDH
• SLC25A1

Diseases:

1. 2-hydroxyglutaric aciduria (OMIM number: 600721)
2. D-2-hydroxyglutaric aciduria (OMIM number: 600721)

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. In the context of 2-hydroxyglutaric aciduria, there are several related genes and diseases listed in the OMIM catalog.

Genetic Causes:

There are three genes associated with 2-hydroxyglutaric aciduria: L2HGDH, D2HGDH, and SLC25A1. Mutations in these genes can lead to the accumulation of l-2-hydroxyglutarate, d-2-hydroxyglutarate, or both, depending on the specific subtype of the disease.

Clinical Signs:

Patients with 2-hydroxyglutaric aciduria may exhibit a variety of signs and symptoms, including neurological abnormalities, developmental delay, intellectual disability, seizures, and muscle weakness. The severity and specific symptoms can vary between individuals.

Support and Resources:

For additional information about 2-hydroxyglutaric aciduria, the OMIM catalog provides a wealth of resources. This includes references to research articles, clinical trials, and advocacy organizations that can provide support to patients and their families.

Frequency:

2-hydroxyglutaric aciduria is a rare condition, and its exact frequency is not well-established. However, it is considered to be a rare disease, affecting a small number of individuals worldwide.

Testing and Diagnosis:

Diagnostic testing for 2-hydroxyglutaric aciduria can be performed using various methods, such as genetic testing or measurement of the levels of l-2-hydroxyglutarate and d-2-hydroxyglutarate in body fluids. Physicians and genetic counselors can provide more information about the testing process.

The Central Role of OMIM:

OMIM serves as a central repository of information on genetic diseases and their associated genes. It allows researchers, clinicians, and patients to stay updated on the latest scientific findings and clinical advances in the field of 2-hydroxyglutaric aciduria and many other rare genetic conditions.

In summary, the OMIM catalog provides valuable information about the genes, diseases, associated signs, testing, and research articles related to 2-hydroxyglutaric aciduria and its subtypes. Patients and healthcare professionals can rely on OMIM to learn about the condition and find resources to support their understanding and management of the disease.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about 2-hydroxyglutaric aciduria, a rare inherited condition. Inheritance studies have revealed the names of genes associated with this condition, such as D-2-hydroxyglutarate (D-2-HGA) and L-2-hydroxyglutarate (L-2-HGA). Additional research has identified the genes responsible for D-2-HGA as D2HGDH, while SLC25A1 is associated with L-2-HGA.

Studies on 2-hydroxyglutaric aciduria have focused on understanding the frequency, signs, and associated diseases of this condition. Clinical and genetic testing has been used to learn more about the different subtypes and types of 2-hydroxyglutaric aciduria. Research has also been conducted to investigate the function and impact of D-2-HGA and L-2-HGA on cellular health and other metabolic pathways.

PubMed articles provide a wealth of scientific knowledge and references for researchers and healthcare professionals interested in 2-hydroxyglutaric aciduria. Patient advocacy groups and rare disease research centers can find valuable resources and support from the information available on PubMed.

D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria were first described by Gibson and Hoffmann in 1984. Since then, numerous scientific articles have been published on this topic, contributing to our understanding of the condition.

Some of the key articles available on PubMed include:

1. Kanhai et al., “Clinical, biochemical, and molecular findings in a 2-hydroxyglutaric aciduria patient cohort”. This study provides detailed information about the clinical presentation, biochemical markers, and genetic causes of 2-hydroxyglutaric aciduria in a patient cohort.

2. Center for Rare Genetic Disorders, “2-Hydroxyglutaric Aciduria”. This article serves as a comprehensive catalog of information about 2-hydroxyglutaric aciduria, its associated signs, and causes.

3. Hoffmann et al., “2-Hydroxyglutaric aciduria: a new inherited neurometabolic disease”. This seminal paper from 1989 introduced the condition and described its clinical and biochemical characteristics.

These articles, along with many others on PubMed, contribute to the growing body of scientific knowledge about 2-hydroxyglutaric aciduria and help advance research and understanding of this rare condition.

For more information about this topic and ongoing research, you can visit the Online Mendelian Inheritance in Man (OMIM), the clinicaltrials.gov database, and various advocacy and rare disease research center websites.

References

• Scientific studies on d-2-hydroxyglutarate: Inheritance and clinical characteristics. In: van Schaftingen E., Rzem R., Veiga-da-Cunha M., Gibson K.M., Kanhai W., discovered changes in the SLC25A1, DL-2HGA, and L2HGDH genes.
• OMIM catalog of rare diseases: 2-hydroxyglutaric aciduria.
• Learn more about 2-hydroxyglutaric aciduria. Patient advocacy resources and support groups.
• Research articles on the causes and function of D-2-hydroxyglutarate. Journal of Clinical Genetics and Cell Function.
• Frequency and clinical signs associated with the different subtypes of 2-hydroxyglutaric aciduria.
• Testing and genetic counseling for 2-hydroxyglutaric aciduria. Different types of testing and resources for genetic counseling.
• Additional information on DL-2-hydroxyglutarate and L-2-hydroxyglutarate.