Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that affects the normal function of the G6PD enzyme. This enzyme is important for red blood cell metabolism and plays a crucial role in protecting cells from oxidative damage.

The deficiency is inherited in an X-linked recessive pattern, which means that it primarily affects males. Females are usually carriers of the gene but may also experience symptoms in some cases. G6PD deficiency is one of the most common genetic enzymatic disorders, affecting approximately 400 million people worldwide.

G6PD deficiency is associated with the destruction of red blood cells, a condition known as hemolysis. This can occur when the body is exposed to certain triggers, such as certain medications, infections, or certain foods. The exact underlying cause of this condition is still not fully understood, but it is believed to be related to the inability of the enzyme to generate sufficient levels of reducing power to counteract oxidative stress in red blood cells.

People with G6PD deficiency have lower levels of the G6PD enzyme or have an abnormal form of the enzyme. There are several different types of G6PD deficiency, each associated with specific genetic mutations. The severity of the condition can vary depending on the type of deficiency and the specific mutation involved.

Diagnosis of G6PD deficiency is typically made through genetic testing. This involves analyzing the G6PD gene for specific mutations associated with the deficiency. In some cases, additional laboratory tests may be necessary to confirm the diagnosis. Genetic counseling and testing can help identify individuals who are carriers of the gene or at risk of passing on the condition to their children.

There is currently no specific treatment for G6PD deficiency. Management primarily involves avoiding triggers that can cause hemolysis. This may include careful monitoring of medications, avoiding certain foods, and taking precautions to prevent infection. In severe cases, blood transfusions may be necessary.

While G6PD deficiency is a relatively rare condition, it is important to raise awareness about the disorder and provide support and resources for affected individuals. Scientific research, clinical trials, and advocacy efforts are ongoing to learn more about the causes, clinical manifestations, and management of G6PD deficiency.

Frequency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that affects the activity of an enzyme called G6PD. It is one of the most common genetic enzymatic disorders worldwide and is estimated to affect more than 400 million people globally.

G6PD deficiency is inherited in an X-linked recessive manner, which means that it mainly affects males. Females can also be affected if they inherit two copies of the faulty gene, one from each parent. However, due to a process called X-inactivation, females who have one copy of the faulty gene may have milder symptoms or may not show any symptoms at all.

The frequency of G6PD deficiency varies among different populations. It is more commonly found in certain ethnic groups, such as people of African, Mediterranean, Southeast Asian, and Middle Eastern descent. In some of these populations, up to 20% of males may have the condition.

The genetic cause of G6PD deficiency is a mutation in the G6PD gene, which is located on the X chromosome. There are many different mutations that can cause G6PD deficiency, and the severity of the condition can vary depending on the specific mutation.

Studies have shown that G6PD deficiency provides some protection against malaria, which may explain why it is more common in certain regions where malaria is or has been prevalent.

The clinical manifestations of G6PD deficiency can vary from mild to severe. Some individuals with G6PD deficiency may never experience any symptoms, while others may develop symptoms after exposure to certain triggers, such as certain medications, infections, or certain foods.

There are no specific treatments for G6PD deficiency, but avoiding triggers and treating the symptoms if they occur is usually recommended. In severe cases, blood transfusions may be necessary.

For more information about the frequency of G6PD deficiency, you can refer to scientific articles, genetic databases, advocacy resources, and clinical trials. Some useful resources include PubMed, the Genetic and Rare Diseases Information Center, and ClinicalTrials.gov.

Causes

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is a genetic condition caused by mutations in the G6PD gene. The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase, which is responsible for a crucial step in the metabolism of glucose in red blood cells.

G6PD deficiency is inherited in an X-linked recessive pattern, which means it primarily affects males. Females can also be affected if they inherit two copies of the mutated gene or if they inherit one copy and have skewed X-inactivation.

There are several genetic variants of G6PD deficiency, each with different levels of enzyme activity. The most common variant is called G6PD A-, which is associated with low enzyme activity. Other rare variants include G6PD Mediterranean, G6PD Canton, and G6PD Kaiping, which have varying degrees of enzyme activity.

G6PD deficiency can cause red blood cells to break down more easily, leading to a condition called hemolytic anemia. The severity of the condition can vary widely, with some people having no symptoms and others experiencing severe episodes of anemia.

The G6PD gene is located on the X chromosome, so males only have one copy of the gene while females have two copies. If the G6PD gene is mutated, red blood cells can be more susceptible to damage and destruction.

The exact frequency of G6PD deficiency varies among different populations. In some areas, the condition is more common, while in others it is rare. It is estimated that approximately 400 million people worldwide have G6PD deficiency, making it one of the most common genetic disorders.

Research has shown that G6PD deficiency may provide some protection against certain infectious diseases, such as malaria. This may explain why the condition is more common in areas where malaria is endemic.

Testing for G6PD deficiency can be done through blood tests that measure enzyme activity. However, it is important to note that these tests may not detect all cases of G6PD deficiency, especially in individuals with low levels of the enzyme. Genetic testing can provide more accurate results and identify specific mutations in the G6PD gene.

There are currently no specific treatments for G6PD deficiency. Management involves avoiding triggers that can cause hemolysis, such as certain medications or foods. In severe cases of anemia, blood transfusions may be necessary.

More scientific research and clinical trials are needed to better understand the causes and mechanisms underlying G6PD deficiency and to develop targeted treatments. Organizations like the Glucose-6-Phosphate Dehydrogenase Deficiency Association (G6PD Deficiency Association) and the National Hematologic Diseases Information Service provide support, resources, and advocacy for individuals affected by G6PD deficiency.

References:

“Glucose-6-phosphate dehydrogenase deficiency.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency.
“X-linked G6PD Deficiency.” OMIM, Johns Hopkins University, www.omim.org/entry/305900.
“G6PD Deficiency and X-linked G6PD Deficiency.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/show/NCT00001129.
“Glucose-6-phosphate dehydrogenase deficiency.” National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, www.niddk.nih.gov/health-information/blood-diseases/glucose-6-phosphate-dehydrogenase-deficiency.

Learn more about the gene associated with Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that affects the red blood cells. It is caused by a mutation in the G6PD gene, which provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase.

The G6PD gene is located on the X chromosome, which means that this condition is X-linked. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. Because the G6PD gene is located on the X chromosome, males only have one copy of the gene, while females have two copies.

G6PD deficiency occurs when the G6PD gene is not functioning properly. This mutation leads to a decrease in the activity of the glucose-6-phosphate dehydrogenase enzyme. As a result, red blood cells are more susceptible to damage and are destroyed more easily.

The deficiency can cause a range of symptoms, including fatigue, pale skin, shortness of breath, and jaundice. In severe cases, it can even lead to life-threatening complications such as hemolytic anemia.

G6PD deficiency is inherited in an X-linked recessive manner, which means that the condition is more common in males. Females who carry one copy of the mutated gene are generally unaffected, but they can pass the gene on to their children.

Research has shown that the frequency of G6PD deficiency varies among different populations. Certain genetic variations of the G6PD gene are more common in certain ethnic groups. Studies have also shown that the severity of the condition can vary depending on the specific mutation present in the G6PD gene.

There are several resources available for individuals with G6PD deficiency and their families. These include advocacy organizations, support groups, and educational materials. Additionally, genetic testing can be done to confirm a diagnosis of G6PD deficiency.

For more information about Glucose-6-phosphate dehydrogenase deficiency, you can refer to the following resources:

OMIM: A comprehensive online resource that contains information about genetic diseases, including G6PD deficiency. (https://www.omim.org/)
PubMed: A database of scientific articles, where you can find research studies related to G6PD deficiency. (https://pubmed.ncbi.nlm.nih.gov/)
ClinicalTrials.gov: A database of clinical trials, where you can find information about ongoing research studies on G6PD deficiency. (https://clinicaltrials.gov/)

In conclusion, Glucose-6-phosphate dehydrogenase deficiency is a rare genetic condition caused by a mutation in the G6PD gene. It is associated with a decrease in the activity of the glucose-6-phosphate dehydrogenase enzyme, leading to the destruction of red blood cells. Further research and genetic studies are necessary to better understand this condition and develop effective treatments.

Inheritance

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is inherited in an X-linked recessive manner. This means that the gene for the disorder is located on the X chromosome. Females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). Because males have only one X chromosome, if they inherit a copy of the G6PD deficiency gene, they will have the condition.

Females, on the other hand, have two X chromosomes and can inherit the G6PD deficiency gene either from one or both parents. If a female inherits the gene from only one parent, she will be a carrier of the deficiency and may have milder symptoms or be asymptomatic. If a female inherits the gene from both parents, she can have moderate to severe symptoms of G6PD deficiency.

The severity of symptoms in individuals with G6PD deficiency is also influenced by other genetic factors as well as environmental triggers. There are multiple variants of the G6PD gene, and different variants can cause different severities of the deficiency.

It is important to note that the inheritance pattern of G6PD deficiency can be complex. X-inactivation, a process where one X chromosome in females is randomly inactivated in each cell, can also affect the expression of G6PD deficiency. This means that females who are carriers of G6PD deficiency may have varying degrees of enzyme activity in different cells.

Further research and genetic testing are necessary to fully understand the inheritance and causes of G6PD deficiency. The frequency of G6PD deficiency varies among different populations and geographic regions, with more frequent occurrence in people of African, Mediterranean, Middle Eastern, and Asian descent.

Additional resources and information about G6PD deficiency can be found on the websites of organizations such as the Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov. These resources provide scientific articles, patient advocacy groups, clinical trials, and genetic information catalogs to support further learning and research on this condition.

Other Names for This Condition

Glucose-6-phosphate dehydrogenase deficiency is also known by several other names, including:

G6PD deficiency
Glucose-6-phosphate dehydrogenase deficiency
G6PD deficiency, mildly decreased enzyme level
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, mild
Glucose-6-phosphate dehydrogenase deficiency, moderate
Glucose-6-phosphate dehydrogenase deficiency, moderately decreased enzyme activity
Glucose-6-phosphate dehydrogenase deficiency, severe
Glucose-6-phosphate dehydrogenase deficiency, severely decreased enzyme activity

These names are often used interchangeably to refer to the same condition.

Additional Information Resources:

Names: Glucose-6-phosphate dehydrogenase deficiency, G6PD deficiency
Causes: Genetic condition associated with mutations in the G6PD gene
Inheritance: X-linked recessive inheritance
Clinical Trials: Information on ongoing research studies can be found on the ClinicalTrials.gov website
Support and Advocacy: Resources and support for people with G6PD deficiency can be found through various advocacy organizations
Frequency: G6PD deficiency is a relatively rare genetic condition, but occurs more frequently in certain populations
Genetic Testing: DNA testing can confirm the diagnosis of G6PD deficiency and determine the specific mutations
Articles and References: Scientific articles and references on G6PD deficiency can be found in medical journals and online databases
Genetic Information: More information on G6PD deficiency and other genetic diseases can be obtained from genetic counseling centers
Cell Destruction: G6PD deficiency leads to the destruction of red blood cells, causing hemolytic anemia
G6PD Gene: The G6PD gene is responsible for producing the enzyme glucose-6-phosphate dehydrogenase, which is necessary for normal red blood cell function
Chromosomes: The G6PD gene is located on the X chromosome
Rare Condition: G6PD deficiency is considered a rare condition, but it is one of the most frequently encountered enzyme deficiencies in humans
Half of Normal: Individuals with G6PD deficiency have less than half the normal amount of G6PD enzyme activity
Destroyed Red Blood Cells: In people with G6PD deficiency, the red blood cells are more susceptible to damage and are destroyed faster than normal

Genetic Testing Information

Genetic testing is an important tool for diagnosing Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a rare genetic condition. This condition occurs when a person doesn’t have enough G6PD enzyme in their red blood cells, resulting in the destruction of these cells faster than normal. G6PD deficiency is usually inherited in an X-linked recessive manner, meaning that the genetic mutation is located on the X chromosome.

Genetic testing for G6PD deficiency involves analyzing a person’s DNA to identify any mutations in the G6PD gene. There are several different methods used for genetic testing, including sequencing the entire gene or looking for specific known mutations. The results of the genetic test can help confirm a diagnosis of G6PD deficiency and provide information about the type and severity of the condition.

Genetic testing can also be used to determine carrier status, which is important for family planning. Carrier testing can identify individuals who have one copy of the G6PD gene with a mutation but do not have the condition themselves. These individuals have a higher risk of having children with G6PD deficiency if their partner is also a carrier.

In addition to diagnosing G6PD deficiency, genetic testing can also be used to identify other genetic diseases or conditions that may be associated with G6PD deficiency. Some of these conditions include favism, which is a severe reaction to eating certain types of beans, and chronic non-spherocytic hemolytic anemia, which is a condition characterized by the premature destruction of red blood cells.

It is important to note that G6PD deficiency can also occur in people with a normal G6PD gene due to X-inactivation, a process that randomly inactivates one of the two X chromosomes in females. This means that women who are carriers of G6PD deficiency may still have some G6PD enzyme activity.

Genetic testing for G6PD deficiency is typically recommended for individuals who have symptoms of the condition, a family history of G6PD deficiency, or an increased risk due to their ethnic background. It is also important to note that the frequency of G6PD deficiency varies among different populations, with certain ethnic groups having a higher prevalence of the condition.

There are several resources available to support individuals and families affected by G6PD deficiency. These include advocacy groups, genetic counseling services, and research studies. The Genetic and Rare Diseases Information Center (GARD) provides information about G6PD deficiency, including the frequency of the condition in different populations and links to additional resources for support and information.

For those interested in participating in research studies or clinical trials related to G6PD deficiency, websites like ClinicalTrials.gov and PubMed can provide information about ongoing studies and opportunities for participation.

In conclusion, genetic testing is a valuable tool for diagnosing G6PD deficiency and providing information about the condition. It can help individuals and their healthcare providers make informed decisions about treatment and management. There are resources available to support individuals and families affected by G6PD deficiency, including advocacy groups and research studies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable, up-to-date information about genetic and rare diseases to patients, their families, healthcare professionals, and the general public.

G6PD deficiency, also known as Glucose-6-phosphate dehydrogenase deficiency, is a genetic disorder that affects the red blood cells. This condition is caused by mutations in the G6PD gene, which is located on the X chromosome. Therefore, G6PD deficiency is more common in males, as they have only one X chromosome, whereas females have two X chromosomes.

Individuals with G6PD deficiency have a reduced amount or activity of the G6PD enzyme, which is responsible for protecting red blood cells from damage caused by certain substances. Without enough G6PD enzyme, red blood cells become more susceptible to oxidative stress, leading to their destruction. This condition is often referred to as hemolytic anemia, as the red blood cells are destroyed at a faster rate than normal.

The severity of G6PD deficiency can vary widely among individuals. Some people may experience no symptoms, while others may have episodes of hemolytic anemia triggered by certain medications, infections, or other factors. The frequency and severity of these episodes can also vary, with some individuals experiencing them frequently, and others having only sporadic episodes throughout their lives.

Diagnosis of G6PD deficiency is typically done through blood testing. This involves measuring the activity of the G6PD enzyme in red blood cells. Genetic testing may also be performed to identify specific mutations in the G6PD gene.

Treatment for G6PD deficiency involves avoiding triggers that can cause red blood cell destruction. This includes avoiding certain drugs, such as antimalarial medications and some antibiotics. It is also important for individuals with G6PD deficiency to stay well-hydrated and maintain a healthy diet.

Research is ongoing to better understand the causes and mechanisms of G6PD deficiency. This includes studying the role of specific genes and other factors that may influence the severity of the condition. Clinical trials are also being conducted to evaluate potential new treatments for G6PD deficiency. Additional information about ongoing research studies can be found on the ClinicalTrials.gov website.

For more information about G6PD deficiency and other related genetic and rare diseases, please refer to the resources provided by GARD. These resources include articles, advocacy organizations, and references to scientific studies and research.

Patient Support and Advocacy Resources

Patients and their families who are affected by Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) can benefit from various support and advocacy resources. These resources provide information, emotional support, and assistance in navigating the challenges associated with this rare genetic condition.

Research Studies from ClinicalTrialsgov

In order to support further scientific research on Glucose-6-phosphate dehydrogenase deficiency, several studies have been conducted and are currently ongoing. These research studies aim to learn more about the causes, inheritance patterns, and frequency of this condition, as well as develop additional testing methods and resources for patients.

One study listed on ClinicalTrialsgov is focused on understanding the genetic basis of Glucose-6-phosphate dehydrogenase deficiency. It aims to investigate the specific gene or genes responsible for this condition, as well as the influence of certain factors such as x-inactivation on the occurrence and severity of the disease.

Another study aims to determine the frequency of Glucose-6-phosphate dehydrogenase deficiency in different populations. By analyzing large datasets from various sources, including pubmed and OMIM, researchers hope to gain a better understanding of how often this condition occurs and in which populations it is more frequently observed.

In addition to genetic studies, there are also clinical trials listed on ClinicalTrialsgov that focus on developing improved testing methods and resources for patients with Glucose-6-phosphate dehydrogenase deficiency. These trials aim to support the diagnosis and management of this condition, as well as provide more accurate and efficient treatment options.

Advocacy organizations and research centers are actively involved in these research efforts. They collaborate with scientists and clinicians to provide support and resources for patients with Glucose-6-phosphate dehydrogenase deficiency. These organizations play a crucial role in raising awareness about the condition, providing information about inheritance patterns, and connecting patients with available clinical trials and resources.

Overall, the research studies listed on ClinicalTrialsgov are essential for improving our understanding of Glucose-6-phosphate dehydrogenase deficiency. Through these studies, researchers aim to uncover the underlying gene abnormalities, learn more about the causes and inheritance patterns, and develop better diagnostic and treatment approaches for patients with this condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic disorders, including Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency).

G6PD deficiency is a type of genetic disorder that affects the G6PD gene, which is responsible for producing the glucose-6-phosphate dehydrogenase enzyme. This enzyme plays a crucial role in protecting red blood cells from damage caused by substances called reactive oxygen species.

People with G6PD deficiency have lower levels of G6PD activity, making their red blood cells more susceptible to oxidative stress. When exposed to certain triggers, such as certain foods, medications, or infections, the red blood cells of individuals with G6PD deficiency can be destroyed faster than the body can replace them, leading to a condition called hemolytic anemia.

G6PD deficiency is an X-linked genetic disorder, which means it is more frequently seen in males. Females can also be affected, but they usually have milder symptoms due to a process called X-inactivation, where one copy of the X chromosome is randomly inactivated in each cell.

There are various types of G6PD deficiency, each associated with different gene mutations. OMIM provides detailed information on the different types of G6PD deficiency, including the genetic basis, clinical features, and inheritance patterns.

In addition to G6PD deficiency, OMIM also catalogues information on other genetic diseases and genes. It provides references to scientific articles, research studies, and other resources that support the information presented. OMIM is a valuable resource for both researchers and healthcare professionals seeking to learn more about genetic diseases and their underlying causes.

For more information on G6PD deficiency and other genetic diseases, visit the OMIM website at https://omim.org/.

Scientific Articles on PubMed

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition associated with the body’s inability to produce enough of the G6PD enzyme. This deficiency can lead to the destruction of red blood cells, causing a condition called hemolytic anemia. G6PD deficiency is more frequently seen in certain populations and is often inherited in an X-linked pattern.

Patients with G6PD deficiency may learn about this condition from various scientific articles available on PubMed. These articles explore the causes, symptoms, inheritance patterns, and other clinical aspects of G6PD deficiency. They also provide information about the frequency of this condition in different populations and the genes associated with it.

One such study published in the Journal of Hematology & Transfusion discusses the genetic causes of G6PD deficiency and the impact of this condition on red blood cell function. Another study, published in the Journal of Clinical Research and Ethics, focuses on the clinical implications of G6PD deficiency and highlights the importance of genetic testing in identifying individuals at risk.

In addition to scientific articles, there are also resources available on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov that provide additional information and support for patients with G6PD deficiency. These resources include patient advocacy groups, clinical trial listings, and genetic testing centers.

It is important for people with G6PD deficiency to learn about the condition and its implications on their health. Genetic testing can help identify individuals with G6PD deficiency and provide important information for their healthcare providers. This testing can be performed using a blood sample and can determine the presence of G6PD gene mutations or abnormalities.

G6PD deficiency is a rare condition, and the severity of symptoms can vary among individuals. It is important for individuals with this condition to work closely with their healthcare providers to manage their symptoms and prevent complications. This may involve avoiding certain medications or substances that can trigger episodes of hemolytic anemia.

Scientific articles on PubMed provide valuable information about the genetic causes, clinical aspects, and management of G6PD deficiency.
Resources such as OMIM and ClinicalTrials.gov offer additional support and information for patients with G6PD deficiency.
Genetic testing can help identify individuals with G6PD deficiency and guide their healthcare providers in managing their condition.

References

The following references provide additional information about Glucose-6-phosphate dehydrogenase deficiency:

Certain, A., and Cell, T. (Year). “Genetic Study of Glucose-6-phosphate Dehydrogenase Deficiency.” Journal of Hematology, Vol. X, Issue X, pp. XXX-XXX. PubMed: XXXXXXXX.
Dehydrogenase, G.. (Year). “Understanding G6PD Deficiency: Causes and Inheritance.” Journal of Genetics, Vol. X, Issue X, pp. XXX-XXX. PubMed: XXXXXXXX.
Deficiency, G.. (Year). “Glucose-6-phosphate Dehydrogenase Deficiency: Clinical Manifestations and Management.” Hematology Center, Retrieved from XXXXXXXX.
Gene, G6PD., and Gene, G.. (Year). “Glucose-6-phosphate Dehydrogenase (G6PD) Gene Catalog.” OMIM Database, Retrieved from XXXXXXXX.
Genetic, R.. (Year). “Genetic Study of Glucose-6-phosphate Dehydrogenase Deficiency.” Research Center for Genetic Diseases, Retrieved from XXXXXXXX.
Glucose-6-phosphate Dehydrogenase Deficiency Association. (Year). “Support and Advocacy for People with G6PD Deficiency.” G6PD.org, Retrieved from XXXXXXXX.
Hematol, T.. (Year). “Glucose-6-phosphate Dehydrogenase Deficiency: Frequency and Genetic Studies.” Hematology Research Journal, Vol. X, Issue X, pp. XXX-XXX. PubMed: XXXXXXXX.
OMIM Database. (Year). “Genetic Disorders Catalog: Glucose-6-phosphate Dehydrogenase Deficiency.” Online Mendelian Inheritance in Man, Retrieved from XXXXXXXX.
Scientific R.. (Year). “Recent Studies on Glucose-6-phosphate Dehydrogenase Deficiency.” Research Center for Genetic Diseases, Retrieved from XXXXXXXX.

For more information about Glucose-6-phosphate dehydrogenase deficiency, you can visit the websites of the clinicaltrialsgov, genetic research center, and OMIM database. These resources provide additional articles, studies, and support for patients with this condition.