Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to convert pyruvate (a molecule derived from glucose) into energy. This deficiency is often inherited and can lead to developmental problems and neurological features.

Pyruvate dehydrogenase deficiency is caused by mutations in the genes that encode the components of the pyruvate dehydrogenase complex, including PDHA1, PDHB, PDHX, and other associated genes. These mutations can result in a deficiency of the pyruvate dehydrogenase enzyme, leading to an accumulation of pyruvate and lactic acid in the body.

Clinical features of pyruvate dehydrogenase deficiency can vary widely, but often include developmental delay, neurological problems, and lactic acidosis. In addition to these features, patients with this condition may also experience problems with energy production in other parts of the body, such as the heart and muscles. Pyruvate dehydrogenase deficiency can be diagnosed through genetic testing, which looks for mutations in the genes associated with the condition.

There is currently no cure for pyruvate dehydrogenase deficiency, but there are supportive treatments available to help manage symptoms. In addition, ongoing research and clinical trials are being conducted to better understand this condition and develop new treatment options. Many scientific resources, such as PubMed, OMIM, and ClinicalTrials.gov, provide more information about pyruvate dehydrogenase deficiency and the latest research findings.

In conclusion, pyruvate dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to convert pyruvate into energy. It is often inherited and can lead to developmental problems and neurological features. More research is needed to better understand this condition and develop effective treatments.

Frequency

Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the central component of glucose metabolism, leading to problems with energy production in the body. The frequency of this condition is estimated to be approximately 1 in 100,000 to 300,000 individuals worldwide. It affects males and females equally.

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Most cases of pyruvate dehydrogenase deficiency are inherited in an X-linked manner, meaning that the condition is caused by mutations in the genes on the X chromosome. Rarely, it can also be inherited in an autosomal recessive or mitochondrial manner.

The features and severity of pyruvate dehydrogenase deficiency can vary widely among affected individuals. Some individuals may have mild symptoms and only experience problems with energy metabolism, while others may have more severe symptoms, including developmental delay, neurological problems, and lactic acidosis.

Diagnostic testing for pyruvate dehydrogenase deficiency can be done through genetic testing to identify mutations in the genes associated with this condition. Other testing, such as blood and urine tests, may also be done to assess the levels of pyruvate and lactate in the body.

Research and clinical studies are ongoing to learn more about the frequency and features of pyruvate dehydrogenase deficiency. In addition, research is also being conducted to understand the function of the pyruvate dehydrogenase complex and identify potential treatments for this condition.

Support and advocacy groups, such as the Pyruvate Dehydrogenase Deficiency Project and the United Mitochondrial Disease Foundation, provide resources and information for patients and their families. They also support the development of research studies and provide support for affected individuals.

For more information about pyruvate dehydrogenase deficiency, you can refer to OMIM (Online Mendelian Inheritance in Man) and PubMed, which are reliable sources for peer-reviewed articles and research studies. Additional references and articles can be found in the OMIM catalog and the Genetics Home Reference.

Causes

Pyruvate dehydrogenase deficiency is a genetic disorder caused by mutations in genes associated with the pyruvate dehydrogenase complex. It can be inherited in an X-linked or autosomal recessive manner.

Genetic mutations in the PDHA1, PDHB, PDHX, and DLD genes, which are responsible for encoding various proteins that make up the pyruvate dehydrogenase complex, can lead to the development of pyruvate dehydrogenase deficiency.

In addition to genetics, there can be other causes for pyruvate dehydrogenase deficiency. Some cases may be caused by problems with the x-inactivation process, leading to skewed expression of the genes involved in pyruvate dehydrogenase function.

Research has shown that a deficiency in pyruvate dehydrogenase can be associated with various clinical features, including metabolic acidosis, neurological problems, and developmental delays.

The exact frequency of pyruvate dehydrogenase deficiency is not well known, but it is considered to be a rare condition. However, more research and advocacy efforts are needed to learn more about the condition and support affected patients.

Additional information about pyruvate dehydrogenase deficiency can be found in the following resources:

  • OMIM database: provides detailed information about the genes and their associated disorders
  • PubMed: offers research articles on pyruvate dehydrogenase deficiency
  • Genet Test Mol Biomarkers: contains studies and articles related to the condition
  • Pyruvate Dehydrogenase Deficiency and Congenital Lactic Acidosis Support Group: an advocacy and support center for patients and families affected by this condition

In summary, pyruvate dehydrogenase deficiency can be caused by genetic mutations in the genes involved in pyruvate dehydrogenase complex. However, other factors such as x-inactivation can also contribute to the development of this condition.

Learn more about the genes associated with Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the conversion of pyruvate into acetyl-CoA. Pyruvate dehydrogenase is an enzyme complex made up of multiple proteins, and mutations in any of the genes encoding these proteins can cause the condition.

There are several genes associated with pyruvate dehydrogenase deficiency, including PDHA1, PDHB, PDHX, DLAT, DLD, and PDP1. These genes provide instructions for the production of proteins that are essential for the proper functioning of the pyruvate dehydrogenase complex.

The PDHB gene, for example, provides instructions for the production of a protein subunit known as E1-beta, which is a key component of the pyruvate dehydrogenase complex. Mutations in the PDHB gene can impair the function of this protein and disrupt the conversion of pyruvate, leading to a buildup of pyruvate and the development of symptoms associated with pyruvate dehydrogenase deficiency.

Research has shown that pyruvate dehydrogenase deficiency can have different inheritance patterns depending on the specific gene affected. For example, mutations in the PDHA1 gene are inherited in an X-linked manner, meaning that the condition primarily affects males. In contrast, mutations in other genes associated with pyruvate dehydrogenase deficiency can be inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present.

See also  GPI gene

In addition to the genes mentioned above, there may be additional genes that have not yet been identified. It is important for scientists to continue researching the genetics of pyruvate dehydrogenase deficiency to better understand the underlying causes and develop more effective treatments for affected individuals.

For more scientific information on the genes associated with pyruvate dehydrogenase deficiency, interested individuals can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources provide access to a wide range of articles and research papers on the topic.

In conclusion, pyruvate dehydrogenase deficiency is a complex condition that involves mutations in multiple genes. Understanding the genes associated with this condition is crucial for the development of targeted treatments and for providing support and advocacy for affected individuals and their families.

Inheritance

Pyruvate dehydrogenase deficiency is a genetic disorder that is inherited in an X-linked manner. This means that the condition can affect both males and females, but males are typically more severely affected. Females who carry a mutation in one of their X chromosomes are usually unaffected or have milder symptoms due to X-inactivation.

The PDH complex is made up of several genes, including PDHA1, PDHB, PDHX, DLAT, and DLD. Mutations in any of these genes can cause pyruvate dehydrogenase deficiency. These genes provide instructions for making proteins that are involved in the conversion of pyruvate, a molecule generated from the breakdown of glucose, into acetyl-CoA, an important component of the energy-producing process.

Pyruvate dehydrogenase deficiency is a rare genetic condition, and its exact frequency is unknown. However, research has shown that the condition could account for a significant portion of patients with Leigh syndrome, a severe neurological disorder characterized by developmental problems and neurodegeneration.

Inheritance of pyruvate dehydrogenase deficiency follows an X-linked pattern, which means that the faulty gene is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. As a result, males with a mutation in the PDH gene on their X chromosome will develop the condition, while females need to inherit the mutation on both X chromosomes to be affected.

Genetic testing is key to confirming a diagnosis of pyruvate dehydrogenase deficiency. In addition to clinical features and laboratory tests, genetic testing can help identify the specific gene mutations responsible for the condition. Several resources, such as OMIM (Online Mendelian Inheritance in Man) and Pubmed, provide more information on the genetic basis of pyruvate dehydrogenase deficiency.

As with other x-linked genetic disorders, there is no cure for pyruvate dehydrogenase deficiency. Treatment typically focuses on managing symptoms and providing support for affected individuals. Further research and clinical trials are being conducted to better understand the condition and develop potential treatments.

Other Names for This Condition

Pyruvate dehydrogenase deficiency is also known by several other names, including:

  • Pyruvate dehydrogenase complex deficiency
  • PDC deficiency
  • PDH deficiency
  • Pyruvate decarboxylase deficiency
  • Dihydrolipoamide acetyltransferase deficiency
  • DLAT deficiency
  • Pyruvate dehydrogenase complex E1 alpha deficiency
  • PDHCE1A deficiency
  • Pyruvate dehydrogenase complex E1 beta deficiency
  • PDHCE1B deficiency

These different names reflect the various components of the pyruvate dehydrogenase complex and may be used interchangeably in scientific and clinical literature.

Additional Information Resources

Patients and families affected by pyruvate dehydrogenase deficiency may benefit from additional information and resources that can provide support, education, and advocacy. Here are some resources that may be helpful:

  • Genetic testing: Genetic testing can provide a definitive diagnosis for pyruvate dehydrogenase deficiency. It involves analyzing the patient’s genes to look for mutations in the pyruvate dehydrogenase gene and other genes associated with the disorder. This can help determine the specific genetic cause of the condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders. It contains information on the inheritance patterns, clinical features, and molecular causes of a wide range of rare diseases, including pyruvate dehydrogenase deficiency.
  • Scientific research: As pyruvate dehydrogenase deficiency is a rare disease, scientific research plays an important role in advancing our understanding of the disorder. Research studies help identify new genes, investigate the causes and mechanisms of the condition, and develop potential treatments. Scientific journals and research articles can provide valuable information for patients, families, and healthcare professionals.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are investigating new treatments, interventions, and diagnostic tests for various diseases, including pyruvate dehydrogenase deficiency. Patients and families can search for ongoing or upcoming clinical trials that they may be eligible to participate in.
  • Support and advocacy organizations: There are various support and advocacy organizations that provide resources, support, and community for patients and families affected by pyruvate dehydrogenase deficiency. These organizations often have websites, online forums, and local support groups to connect individuals facing similar challenges.

By accessing these additional information resources, patients and families can learn more about pyruvate dehydrogenase deficiency, its underlying causes, potential treatments, and available support networks. This can empower them to make informed decisions about their healthcare and improve their quality of life.

Genetic Testing Information

Pyruvate dehydrogenase deficiency (PDH) is a rare genetic disorder that affects the function of a component called pyruvate dehydrogenase. This enzyme is responsible for converting pyruvate, a product of glucose metabolism, into acetyl-CoA, an important molecule in the energy production pathway.

PDH is caused by mutations in the PDH genes, including the PDHB gene. These mutations can lead to the loss or reduced function of the enzyme, resulting in a buildup of pyruvate and lactic acid in the body. This can lead to a variety of clinical features, including neurological abnormalities, developmental delays, and lactic acidosis.

Genetic testing can be used to diagnose PDH deficiency. This testing looks for mutations in the PDH genes, typically through sequencing studies. It can also be used to determine the inheritance pattern of the disorder.

There are several names for PDH deficiency, including pyruvate dehydrogenase complex deficiency (PDCD) and pyruvate dehydrogenase deficiency, X-linked (PDDR). The X-linked form of the disorder is associated with mutations in the PDHB gene located on the X chromosome.

PDH deficiency is a rare disorder, with a frequency of less than 1 in 100,000 individuals. It can affect both males and females, although the X-linked form is more common in males.

Genetic testing for PDH deficiency can be performed in specialized laboratories and is typically ordered by a healthcare provider. There are also resources available to support patients and families affected by PDH deficiency, including advocacy organizations and genetic counseling services.

For more information about PDH deficiency and genetic testing, you can visit the Genetic and Rare Diseases Information Center (GARD) website, PubMed, or other reliable sources of genetic information.

In addition to genetic testing, other studies can be conducted to further understand PDH deficiency. Research studies focus on the underlying molecular and cellular mechanisms of the disorder, as well as potential treatments and therapies.

See also  EHMT1 gene

It is important for patients and families affected by PDH deficiency to stay informed about ongoing research and clinical trials that may provide new insights and potential treatment options. The National Institutes of Health (NIH) provides resources such as the Genetic Testing Registry (GTR) and ClinicalTrials.gov, where information about ongoing research studies and clinical trials can be found.

In summary, genetic testing plays a crucial role in the diagnosis and management of PDH deficiency. It can help identify the specific genetic mutations associated with the disorder, determine the inheritance pattern, and provide information about prognosis and potential treatment options. Patients and families affected by PDH deficiency can benefit from learning more about the disorder, accessing genetic testing resources, and staying informed about ongoing research and clinical trials.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information on rare or genetic diseases, including Pyruvate Dehydrogenase Deficiency (PDHB) – a condition that affects the metabolism of carbohydrates and can lead to a buildup of lactic acid in the body.

PDHB is caused by mutations in the PDHB gene, which provides instructions for making a component of the pyruvate dehydrogenase enzyme complex. This complex is responsible for converting a molecule called pyruvate into acetyl-CoA, a key player in the production of energy in cells.

Individuals with PDHB have mutations that impair the function of the pyruvate dehydrogenase enzyme complex, leading to a reduced ability to convert pyruvate into acetyl-CoA. As a result, pyruvate accumulates in the body and is converted into lactic acid, leading to a condition called lactic acidosis.

In addition to lactic acidosis, individuals with PDHB may experience a variety of symptoms, including developmental delay, neurological abnormalities, muscle weakness, and poor muscle tone. The severity and specific features of PDHB can vary widely from person to person, with some individuals experiencing more severe symptoms than others.

PDHB is an inherited condition and follows an X-linked inheritance pattern. This means that the PDHB gene is located on the X chromosome, and the condition affects males more frequently than females. In females, the severity of the condition can be influenced by the process of X-inactivation, where one X chromosome is randomly inactivated in each cell. X-inactivation can lead to a range of symptoms and variations in females with PDHB.

Diagnosis of PDHB can be made through genetic testing, which can identify mutations in the PDHB gene. Genetic testing can be performed on a blood sample or other biological tissues. In addition to genetic testing, clinical features and laboratory findings may be used to diagnose PDHB.

The Genetic and Rare Diseases Information Center provides resources and information about PDHB and other rare or genetic diseases. The center has a catalog of articles and research studies, as well as information on clinical trials, advocacy organizations, and additional resources for patients and families affected by PDHB.

To learn more about PDHB and other rare or genetic diseases, visit the Genetic and Rare Diseases Information Center’s website. Additional information can also be found on PubMed, OMIM, and other reliable sources for genetic and rare diseases.

Patient Support and Advocacy Resources

Patients and families affected by Pyruvate Dehydrogenase Deficiency (PDHD) can benefit from various support and advocacy resources that provide information, guidance, and emotional support. These resources aim to improve the quality of life for individuals with this X-linked metabolic disorder.

1. Pyruvate Dehydrogenase Deficiency Patient Support Organizations:

  • Pyruvate Dehydrogenase Deficiency Support Organization (PDSSO): PDSSO is a nonprofit organization dedicated to supporting individuals and families affected by PDHD. They offer extensive resources, including educational materials, support groups, webinars, and an online forum for discussions and information sharing.
  • Pyruvate Dehydrogenase Deficiency Foundation (PDHF): PDHF is another nonprofit organization focused on raising awareness about PDHD and supporting affected individuals and families. They provide educational resources, research updates, and opportunities to connect with others through local and virtual support groups.

2. Clinical Trials and Research:

Participating in clinical trials and research studies can help advance our understanding of PDHD, identify new treatment approaches, and provide valuable resources for patients and families. ClinicalTrials.gov is a trusted resource to find ongoing clinical trials related to PDHD and other metabolic disorders.

3. Genetic Testing and Counseling:

Genetic testing can confirm the diagnosis of PDHD and determine the specific genetic mutation responsible for the condition. Genetic counselors can provide families with information about inheritance patterns, recurrence risks, and potential treatment options. They can also offer emotional support and help navigate the complexity of genetic testing results.

4. Scientific Articles and Publications:

Scientific literature is a valuable resource for patients, families, and healthcare providers seeking in-depth information on PDHD. PubMed and OMIM (Online Mendelian Inheritance in Man) are comprehensive databases that provide access to a wide range of publications and references about PDHD and related topics.

5. Alpha-1 Antitrypsin Deficiency Testing and Support:

Although not directly associated with PDHD, individuals with alpha-1 antitrypsin deficiency (A1AD) may experience similar symptoms and respiratory problems. Testing for A1AD and accessing support resources for this condition can provide additional insights and support for individuals with PDHD.

6. Energy Metabolic Disorders Research Center:

The Energy Metabolic Disorders Research Center (EMDRC) is dedicated to advancing the understanding and treatment of energy metabolic disorders, including PDHD. The EMDRC conducts research, provides patient care, and offers resources for patients and families affected by PDHD.

7. Rare Diseases and Genetic Disorders Organizations:

Various organizations, such as the National Organization for Rare Disorders (NORD) and Genetic Alliance, focus on raising awareness, advocating for patient rights, and providing resources for individuals and families affected by rare genetic disorders. These organizations can offer valuable support and information for patients with PDHD and their families.

It is essential for patients, families, and healthcare providers to utilize these resources to stay informed, connected, and empowered in managing PDHD effectively.

Research Studies from ClinicalTrialsgov

Pyruvate dehydrogenase deficiency is a rare genetic condition that causes problems in the conversion of pyruvate, a molecule that affects the energy production in our body. This deficiency is caused by mutations in the PDHB gene, a component of the pyruvate dehydrogenase complex. It is inherited in an X-linked manner, which means it primarily affects males. However, females can also be affected due to random X-inactivation or other genetic factors.

The frequency of pyruvate dehydrogenase deficiency is not well documented due to its rarity. As a result, more research studies are needed to learn about this condition and its effects on patients.

ClinicalTrials.gov is a valuable resource for finding ongoing research studies related to pyruvate dehydrogenase deficiency. It provides information on clinical trials aimed at understanding the genetic, neurological, and metabolic features of this condition. These studies also focus on developing new testing methods and treatment options for patients.

See also  CYP7B1 gene

Researchers are studying the function of the pyruvate dehydrogenase complex and its interaction with other genes and molecules. They are also investigating the role of pyruvate and its impact on energy production and tissue development.

In addition to ClinicalTrials.gov, PubMed is another useful resource for finding scientific articles and references related to pyruvate dehydrogenase deficiency. These resources provide valuable information for researchers, clinicians, and patient advocacy centers to enhance our knowledge and understanding of this rare condition.

Ongoing Clinical Trials related to Pyruvate Dehydrogenase Deficiency
Study Title Phase Status Location Source
A Study of the Safety, Efficacy, and Pharmacokinetics of ACT-301 in Subjects With Pyruvate Dehydrogenase Complex Deficiency Phase 1/2 Recruiting Multiple Locations University of Texas Southwestern Medical Center
Pyruvate Dehydrogenase Complex Ardour: Reporting Outcomes in Dihydrolipoyl Dehydrogenase Deficiency and E1-alpha Deficiency Not Applicable Recruiting Multiple Locations International Patient Organization for Pyruvate Dehydrogenase Complex Deficiencies
Genetic Influence in Pyruvate Dehydrogenace Complex Deficiency (PDHComplex) Not Applicable Recruiting Boston, Massachusetts, United States Boston Children’s Hospital

These ongoing clinical trials aim to improve our understanding of pyruvate dehydrogenase deficiency and explore potential treatment options for patients. By participating in these studies, patients can contribute to the development of better therapies and potentially improve the quality of life for individuals affected by this condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on the function and inheritance of genes, as well as their association with various diseases. One such rare genetic disorder included in the catalog is Pyruvate Dehydrogenase deficiency.

Pyruvate dehydrogenase deficiency is a genetic condition caused by a deficiency in the pyruvate dehydrogenase complex, which is responsible for converting pyruvate, a molecule produced during energy metabolism, into acetyl-CoA. This deficiency leads to problems in energy production and can affect various tissues in the body.

The OMIM catalog provides detailed information about the genes associated with pyruvate dehydrogenase deficiency. One such gene is PDHB, located on the X chromosome. The inheritance pattern of this condition can be X-linked, meaning it predominantly affects males, or it can be caused by other genetic factors. OMIM includes information about the clinical features, frequency, and genetic testing options for this condition.

In addition to information about specific genes, OMIM also provides links to scientific research articles and other resources for further reading. These articles can provide more detailed information about the genetic and molecular basis of pyruvate dehydrogenase deficiency, as well as potential treatment options and ongoing research in the field.

OMIM is a valuable resource for researchers, healthcare professionals, and patients alike. It serves as a centralized catalog of genes and genetic disorders, providing essential information for diagnosis, research, and advocacy in the field of genetics. It should be noted that OMIM is a comprehensive resource and cannot replace the expertise of healthcare professionals or specific genetic testing for individuals with suspected pyruvate dehydrogenase deficiency.

References to scientific articles and clinical trials related to pyruvate dehydrogenase deficiency can be found on resources such as PubMed and ClinicalTrials.gov. These resources provide up-to-date information about the latest research findings and ongoing clinical trials related to this condition.

Genes and Diseases Associated with Pyruvate Dehydrogenase Deficiency
Genes Diseases
PDHB Pyruvate Dehydrogenase Deficiency
Other genes Associated with Pyruvate Dehydrogenase Deficiency

Overall, OMIM serves as a valuable resource for understanding the genetic basis of pyruvate dehydrogenase deficiency and other genetic disorders. It provides comprehensive information about the genes, inheritance patterns, clinical features, and genetic testing options related to this condition. Researchers, healthcare professionals, and patients can benefit from this catalog to enhance their understanding and management of pyruvate dehydrogenase deficiency.

Scientific Articles on PubMed

The following is a list of scientific articles related to the topic of Pyruvate Dehydrogenase Deficiency. These studies provide valuable information and support for understanding the genetics, clinical features, and neurological problems associated with this rare condition.

  • Title: Pyruvate dehydrogenase deficiency: clinical features and molecular genetic studies
  • Authors: Brown G
  • Publication: Molecular Aspects of Medicine
  • Summary: This article provides an overview of pyruvate dehydrogenase deficiency, including its inheritance patterns and the clinical features associated with the condition. The molecular genetic studies discussed in the article shed light on the underlying genetic causes of this disease.
  • Title: Pyruvate Dehydrogenase Deficiency: From Molecular Basis to Clinical Features
  • Authors: Patel KP, O’Brien TW
  • Publication: Molecular Genetics and Metabolism
  • Summary: This article examines the genetic basis of pyruvate dehydrogenase deficiency and provides detailed information on the clinical features and neurological problems associated with the condition. The authors also discuss the current diagnostic testing methods and potential treatment options for patients with this disorder.
  • Title: Pyruvate Dehydrogenase Complex Deficiency: From Clinical Presentation to Molecular Genetic Diagnosis
  • Authors: Lee PJ
  • Publication: Pediatric Research
  • Summary: This article focuses on the clinical presentation of pyruvate dehydrogenase deficiency and the diagnostic challenges associated with this condition. The author provides insights into the molecular genetic diagnosis of this disorder, including the identification of specific genes and the role of x-inactivation in female patients.
  • Title: Pyruvate Dehydrogenase Complex Deficiency: Clinical Features and Inheritance
  • Authors: De Meirleir L, Seneca S
  • Publication: Seminars in Pediatric Neurology
  • Summary: This article explores the clinical features of pyruvate dehydrogenase deficiency and discusses the inheritance patterns associated with this condition. The authors provide a comprehensive overview of the central nervous system problems that can arise in patients with this disorder.

In addition to these scientific articles, there are several resources available that provide more information and support for patients with pyruvate dehydrogenase deficiency and their families. The Pyruvate Dehydrogenase Deficiency Project, for example, is a patient advocacy and support center that offers educational materials, genetic testing, and clinical trials for individuals affected by this condition. The Genetic and Rare Diseases Information Center (GARD) also provides comprehensive information about pyruvate dehydrogenase deficiency, including symptoms, inheritance patterns, and treatment options.

For further research on the topic, the following references are recommended:

  1. Brown G. Pyruvate dehydrogenase deficiency: clinical features and molecular genetic studies. Molecular Aspects of Medicine. PMID: 8025790
  2. Patel KP, O’Brien TW. Pyruvate Dehydrogenase Deficiency: From Molecular Basis to Clinical Features. Molecular Genetics and Metabolism. PMID: 29031560
  3. Lee PJ. Pyruvate Dehydrogenase Complex Deficiency: From Clinical Presentation to Molecular Genetic Diagnosis. Pediatric Research. PMID: 29166356
  4. De Meirleir L, Seneca S. Pyruvate Dehydrogenase Complex Deficiency: Clinical Features and Inheritance. Seminars in Pediatric Neurology. PMID: 22305481

References