Glycogen storage disease type I (GSDI), also known as glycogen storage disease type Ia (GSDIa) or von Gierke disease, is a rare genetic disorder characterized by the inability of the body to break down glycogen into glucose. This results in the accumulation of glycogen in various tissues and organs, particularly the liver and kidneys. GSDI is caused by mutations in the G6PC gene, which codes for the enzyme glucose-6-phosphatase.
There are two types of GSDI: GSDIa and GSDIb. GSDIa is the more common type and is associated with hepatorenal dysfunction, severe hypoglycemia, and growth retardation. GSDIb is a milder form of the disease that is characterized by neutropenia and an increased susceptibility to bacterial infections.
The frequency of GSDI is estimated to be 1 in 100,000 to 1 in 200,000 births, making it a rare condition. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for the disease to occur in their child.
Diagnosis of GSDI can be confirmed through genetic testing, which looks for mutations in the G6PC gene. Additional testing may include liver biopsies and blood tests to evaluate glucose and glycogen levels. Treatment for GSDI involves a strict diet that limits intake of carbohydrates and regular monitoring of blood glucose levels.
There is currently no cure for GSDI, and management of the disease focuses on preventing complications and managing symptoms. Research studies and clinical trials are ongoing to learn more about the underlying causes of GSDI and explore potential treatments. Support resources for patients and families affected by GSDI can be found through organizations such as the American Glycogen Storage Disease Association and the Genetic and Rare Diseases Information Center.
For more information about Glycogen storage disease type I, refer to articles available on OMIM, PubMed, and other scientific research databases. Additionally, clinical trials related to GSDI can be found on ClinicalTrials.gov, and the Genetic Testing Registry provides information on genetic testing options for this condition.
References:
– OMIM article on Glycogen storage disease, type I
– Pubmed articles on Glycogen storage disease, type I
– Genetic Testing Registry for GSDI
– ClinicalTrials.gov for clinical trials related to GSDI
Frequency
Glycogen storage disease type I (GSDI) is a rare genetic disorder caused by a defect in the gene that codes for glucose-6-phosphatase (G6PC) enzyme. This enzyme is involved in the breakdown and release of stored glucose (in the form of glycogen) into the bloodstream. As a result of this defect, glycogen cannot be properly stored and released by the body’s tissues, leading to problems with glucose homeostasis.
GSDI is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the defective gene, one from each parent. The frequency of GSDI varies among different populations, with GSDIa being the most common subtype. The estimated frequency of GSDIa is approximately 1 in 100,000 to 1 in 200,000 live births in the general population.
There are several types of GSDI, including GSDIa, GSDIb, and GSDIc. GSDIa is the most common type and is characterized by the deficiency of the glucose-6-phosphatase enzyme in the liver, kidneys, and intestines. GSDIb is associated with additional neutropenia (low levels of neutrophils in the blood) and is caused by a defect in the glucose-6-phosphate transporter protein. GSDIc is a rare type that is caused by a defect in the glucose-6-phosphate translocase protein.
Studies on the frequency and distribution of GSDI have been conducted in various populations. For example, a study published in the American Journal of Medical Genetics reported a frequency of GSDIa in the American population to be approximately 1 in 400,000 live births. Another study published in the Journal of Medical Genetics estimated the frequency of GSDIa in the Ashkenazi Jewish population to be 1 in 20,000 live births.
More information about the frequency of GSDI can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic diseases and associated genes. The Genetics Home Reference website also provides information on the frequency of genetic diseases and resources for genetic testing, research, and advocacy.
References:
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Chou JY, Mansfield BC; The clinical and molecular spectrum of glycogen storage disease due to glucose-6-phosphatase-α (G6PC) deficiency. Mol Genet Metab. 2018 Aug;124(4):324-329. doi: 10.1016/j.ymgme.2018.05.005.
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Chen YT; Glycogen Storage Diseases. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. The Online Metabolic and Molecular Bases of Inherited Disease.
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National Institutes of Health. Glycogen Storage Disease Type I. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
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ClinicalTrials.gov. Search results for “glycogen storage disease type I”. Available from: https://clinicaltrials.gov/ct2/results?cond=%22Glycogen+Storage+Disease+Type+I%22
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PubMed. Search results for “glycogen storage disease type I”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=glycogen+storage+disease+type+I
Causes
Glycogen storage disease type I (GSDI) is a rare genetic condition caused by mutations in the G6PC or SLC37A4 genes. These genes provide instructions for making proteins involved in the breakdown and production of glycogen, which is a form of stored glucose in the body. Mutations in these genes disrupt the normal function of glucose-6-phosphatase, an enzyme that converts stored glycogen into glucose for energy.
GSDI is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. Parents of an individual with GSDI usually carry one copy of the mutated gene but do not show signs of the condition.
There are two types of GSDI: type Ia (GSDIa) and type Ib (GSDIb). GSDIa is caused by mutations in the G6PC gene, while GSDIb is caused by mutations in the SLC37A4 gene. GSDIa is the most common type and is associated with symptoms such as hepatorenal (liver and kidney) problems and neutropenia (low white blood cell count). GSDIb, in addition to the symptoms of GSDIa, is also associated with inflammatory bowel disease.
Research studies have identified more than 100 mutations in the G6PC gene and several mutations in the SLC37A4 gene that cause GSDI. The frequency of these mutations varies among different populations.
To learn more about the specific mutations associated with GSDI, you can refer to databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the GSDI Center for information
Additional scientific articles, genetic testing resources, and advocacy groups may provide more information on the causes and inheritance of GSDI. ClinicalTrials.gov is also a valuable resource to find ongoing research studies and clinical trials related to GSDI.
Learn more about the genes associated with Glycogen storage disease type I
Glycogen storage disease type I (GSDI) is a rare genetic disorder that affects the body’s ability to break down glycogen, a stored form of glucose in the body. There are two types of GSDI – GSDIa, which is caused by a deficiency of the enzyme glucose-6-phosphatase, and GSDIb, which is caused by a deficiency of the enzyme glucose-6-phosphate translocase.
The genes associated with GSDI are G6PC and SLC37A4. Mutations in the G6PC gene cause GSDIa, while mutations in the SLC37A4 gene cause GSDIb. These genes provide instructions for making proteins that are involved in the breakdown of glycogen in the liver and kidneys.
Frequency: GSDIa is estimated to occur in about 1 in 100,000 to 200,000 births worldwide, while GSDIb is even rarer with an estimated frequency of 1 in 1 million to 10 million births.
Causes: In GSDIa, mutations in the G6PC gene result in a deficiency of the glucose-6-phosphatase enzyme. This leads to an accumulation of glycogen in the liver and kidneys, causing the characteristic symptoms of GSDI. In GSDIb, mutations in the SLC37A4 gene lead to a deficiency of the glucose-6-phosphate translocase enzyme, which affects the transport of glucose-6-phosphate out of the cell.
Inheritance: GSDI is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to have the condition. If both parents are carriers of a GSDI mutation, each child has a 25% chance of inheriting the condition.
To learn more about the genes associated with GSDI and the conditions they cause, you can refer to genetic databases such as the Online Mendelian Inheritance in Man (OMIM) or the Human Gene Mutation Database (HGMD). These resources provide detailed information about the genes, their mutations, and the clinical manifestations of GSDI.
In addition, there are several advocacy and support organizations that provide resources for patients and families affected by GSDI, such as the American Liver Foundation and the Association for Glycogen Storage Disease. These organizations offer information about the disease, support services, and opportunities for participation in research studies and clinical trials.
Further research on the genetics of GSDI is ongoing, with scientific studies aimed at understanding the underlying molecular mechanisms of the disease and developing potential treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies and clinical trials related to GSDI.
In conclusion, understanding the genes associated with GSDI is critical for diagnosis, genetic testing, and research purposes. By learning more about these genes and the genetic basis of the disease, we can advance our knowledge and develop better treatments for individuals with GSDI.
Inheritance
The inheritance of Glycogen Storage Disease Type I (GSDI) is autosomal recessive, which means that both parents must carry a copy of the defective gene for a child to be affected.
GSDI is caused by defects in the G6PC gene, which provides instructions for making the enzyme glucose-6-phosphatase. This enzyme is responsible for breaking down glycogen into glucose in the cells of the body.
There are two types of GSDI, GSDIA and GSDIB, which are associated with different mutations in the G6PC gene. GSDIA is the more common type and is usually found in the liver and kidneys, causing hepatorenal disease. GSDIB, on the other hand, can affect multiple tissues in the body and is associated with neutropenia (a decrease in the number of neutrophils, a type of white blood cell).
Since GSDI is a rare condition, there is limited information available about the frequency of the disease and the genes involved. However, there are resources and advocacy groups, such as the Glycogen Storage Disease Advocacy Association (GSDDA) and the American Genetic Association, that provide support and additional information about the condition.
The inheritance pattern and genetic cause of GSDI make genetic testing an important tool for diagnosis. Testing can also provide useful information for patients and their families, as well as for genetic research and clinical trials. ClinicalTrial.gov and OMIM (Online Mendelian Inheritance in Man) are valuable resources for finding studies and articles related to GSDI and other genetic diseases.
In conclusion, GSDI is a rare genetic condition inherited in an autosomal recessive manner. Defects in the G6PC gene cause problems in glycogen storage and glucose metabolism in the body. Additional information and resources about GSDI and its inheritance can be found through genetics centers, advocacy groups, and genetic research databases like ClinicalTrial.gov and OMIM.
Other Names for This Condition
Glycogen storage disease type I (GSDI) is a rare genetic condition caused by a defect in the gene that codes for an enzyme called glucose-6-phosphatase. This defect leads to problems with the storage and release of glucose, resulting in a build up of glycogen in various tissues of the body.
There are several other names for this condition, including:
- Glycogen storage disease type I (GSDI)
- Glycogen storage disease type Ia (GSDIa)
- Hepatorenal glycogenosis
- GSD type I
- Type I glycogen storage disease
- Glucose-6-phosphatase deficiency
These names are all used interchangeably to refer to the same condition. The different names reflect different aspects of the disease and its underlying genetics.
Research and testing for glycogen storage disease type I is ongoing, and there are several clinical trials and studies listed on clinicaltrialsgov that focus on different aspects of the condition. The National Institutes of Health’s Genetic and Rare Diseases (GARD) Information Center and the Online Mendelian Inheritance in Man (OMIM) catalog also provide additional resources and information for patients and families affected by this rare disease.
Genetic counseling and support from advocacy organizations such as the Genetic and Rare Diseases (GARD) Information Center, the National Organization for Rare Disorders (NORD), and the American Association for Glycogen Storage Disease (AAGSD) can provide further assistance and resources.
References:
- OMIM catalog. Available from: https://omim.org/entry/232200.
- PubMed articles on glycogen storage diseases. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=glycogen+storage+disease&type=article.
- ClinicalTrials.gov. Available from: https://clinicaltrials.gov/.
Note: The information provided here is for educational purposes only and should not be used for diagnostic or treatment purposes. Always consult a healthcare professional for more information on your specific condition.
Additional Information Resources
Here is a list of additional resources where you can find more information about Glycogen Storage Disease Type I:
- Online Resources:
- Genetics Education Center – Provides information on genetics and inherited diseases.
- OMIM – Online Mendelian Inheritance in Man. A comprehensive catalog of human genes and genetic diseases.
- PubMed – A database of scientific articles and research studies on genetics and diseases.
- ClinicalTrials.gov – A registry of clinical trials for various conditions, including Glycogen Storage Disease Type I.
- Support and Advocacy Groups:
- Genetic Alliance – Provides information, resources, and support for patients and families affected by genetic conditions.
- Association for Glycogen Storage Disease – Offers support, education, and advocacy for individuals and families affected by glycogen storage diseases.
- Clinical Centers and Institutes:
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) – Conducts research and provides information on glycogen storage diseases and related conditions.
- National Center for Advancing Translational Sciences (NCATS) – Supports research on rare diseases, including Glycogen Storage Disease Type I.
- Learn More about Glycogen Storage Disease Type I:
- Genetic and Rare Diseases Information Center (GARD) – Provides information on Glycogen Storage Disease Type I and other rare genetic diseases.
- Genetic Testing and Inheritance:
These resources can provide you with more information, support, and research articles on Glycogen Storage Disease Type I and related conditions. It is important to consult with healthcare professionals for accurate diagnosis, treatment, and management of this rare genetic disease.
Genetic Testing Information
Glycogen storage disease type I (GSDI) is a rare genetic condition caused by defects in genes associated with glucose-6-phosphatase, an enzyme involved in glycogen metabolism. There are two types of GSDI, namely GSDIa and GSDIb, each caused by mutations in different genes.
Genetic testing is available to diagnose GSDI and determine the specific gene defect causing the condition. The most common gene mutations associated with GSDIa are found in the G6PC gene, while mutations in the SLC37A4 gene are responsible for GSDIb. These tests can be performed on a blood or tissue sample, usually through a comprehensive panel test known as glycogen storage disease panel 1 (GSDP1).
The frequency of GSDI varies among different populations, with GSDIa being more common than GSDIb. Studies have shown that GSDIa affects approximately 1 in 100,000 to 200,000 people, while GSDIb is much rarer with an estimated incidence of 1 in 1 million to 10 million individuals.
Genetic testing not only provides a definitive diagnosis for GSDI but also allows for carrier testing and prenatal testing for families at risk. Carrier testing can identify individuals who carry a single copy of the mutated gene but do not show symptoms of the disease. Prenatal testing can be performed during pregnancy to determine if the fetus has inherited the gene defect causing GSDI.
In addition to GSDI, genetic testing can also be used to diagnose and determine the genetic cause of other rare diseases with associated glycogen storage problems, such as glycogen storage disease type II (Pompe disease) and glycogen storage disease type III (Cori disease).
Genetic testing for GSDI can be ordered by healthcare providers and is typically performed by specialized genetic testing laboratories. These laboratories often offer a range of genetic tests for various rare diseases and have resources available for patient support and advocacy.
More information about genetic testing for GSDI and other rare genetic diseases can be found on the websites of organizations like the Genetic and Rare Diseases Information Center (GARD) and the American College of Medical Genetics and Genomics.
Scientific articles and research studies on GSDI and its genetics can be found in databases like PubMed, OMIM, and clinicaltrialsgov. These resources provide valuable information for healthcare professionals and researchers interested in studying and treating GSDI.
| Resource | Description |
|---|---|
| Genetic and Rare Diseases Information Center (GARD) | A comprehensive resource for information on GSDI and other rare genetic diseases. Provides patient support and advocacy resources. |
| American College of Medical Genetics and Genomics | An organization that offers guidelines and resources for genetic testing in various genetic conditions, including GSDI. |
| PubMed | A database of scientific articles and research studies on GSDI and related topics. |
| OMIM | A comprehensive catalog of human genes and genetic disorders. Provides information on the genetic basis of GSDI. |
| ClinicalTrials.gov | A database of ongoing clinical trials related to GSDI and other rare diseases. Provides information on potential treatment options and research opportunities. |
Genetic testing is an important tool in the diagnosis and management of GSDI. It allows for accurate diagnosis, identification of carriers, and prenatal testing, providing valuable information for patients and their families. Continued research and support from advocacy organizations and healthcare providers are crucial in advancing our understanding of GSDI and improving patient care.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an American resource that provides information on genetic and rare diseases. 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 information about the causes, symptoms, diagnosis, and treatment of various genetic and rare diseases, including Glycogen Storage Disease Type I (GSDI). GSDI is a rare genetic disorder caused by a defect in the G6PC or G6PT gene, which affects the body’s ability to break down and store glucose-6-phosphatase (G6P).
There are several types of GSDI, with GSDIa being the most common. In GSDIa, the enzyme deficiency primarily affects the liver, causing hepatomegaly (enlarged liver) and hepatorenal (liver and kidney) symptoms. Other types of GSDI may affect different tissues within the body and have varying symptoms.
The frequency of GSDI varies among different populations. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be affected for an individual to have the condition. Individuals who only have one copy of the gene mutation are carriers and do not usually have symptoms of the disease.
Diagnosis of GSDI is typically confirmed through genetic testing, which can identify mutations in the G6PC or G6PT genes. Additional testing may be done to assess liver and kidney function, as well as to evaluate glucose and lactate levels.
There is currently no cure for GSDI, but treatment aims to manage symptoms and prevent complications. This may involve dietary modifications, such as frequent meals, a high complex carbohydrate and low simple sugar diet, and cornstarch supplementation. Regular monitoring of glucose levels and liver function is also important.
Patients and families affected by GSDI can find support and more information through various resources, including patient advocacy organizations, research studies, and clinicaltrials.gov, which provides information on ongoing clinical trials and research studies related to GSDI. The Genetic and Rare Diseases Information Center also provides a catalog of articles, scientific references, and other resources for individuals seeking more information about GSDI and other related rare diseases.
References:
- Glycogen Storage Disease Type I. Genetic and Rare Diseases Information Center. Accessed February 10, 2022. https://rarediseases.info.nih.gov/diseases/9591/glycogen-storage-disease-type-1
- Glycogen Storage Disease Type I. OMIM. Accessed February 10, 2022. https://www.omim.org/entry/232200
- Glycogen Storage Disease Type I. PubMed. Accessed February 10, 2022. https://pubmed.ncbi.nlm.nih.gov/?term=Glycogen+Storage+Disease+Type+I
Patient Support and Advocacy Resources
Patients with Glycogen storage disease type I (GSDI) and their families can benefit from various support and advocacy resources. These resources provide information and assistance to individuals affected by this rare genetic disease.
The Association for Glycogen Storage Disease (AGSD): The AGSD is a non-profit organization that supports families and individuals affected by GSDs. Their website offers information and resources, including educational materials, support groups, and links to related organizations. They also provide a helpline for individuals seeking help and guidance.
G6PD Deficiency & Favism Association: G6PD Deficiency & Favism Association is an advocacy organization that provides support and information for individuals with G6PD deficiency, a genetic condition that can be associated with GSDI. They offer resources such as educational materials, support groups, and assistance in finding healthcare professionals with expertise in GSDI and related conditions.
National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that supports individuals with rare diseases, including GSDI. Their website provides information on GSDI and other rare diseases, resources for patients and families, and links to clinical trials and research studies on GSDI.
ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials conducted around the world. Individuals with GSDI can search for ongoing or upcoming clinical trials related to their condition on this website. Participating in a clinical trial can provide access to experimental treatments and contribute to scientific research.
Genetics Home Reference: Genetics Home Reference is a comprehensive resource provided by the National Library of Medicine. It offers information on various genetic diseases, including GSDI. Patients and their families can find information on the causes, inheritance patterns, and symptoms of GSDI. The website also provides links to research articles and genetic testing resources.
Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogs information on genetic disorders and their associated genes. It provides detailed information on the genetic basis of GSDI, including the specific genes (such as G6PC and G6PT) associated with the disease. OMIM also includes references to scientific articles and other resources for further learning.
Patient Advocacy Groups and Support Forums: There are several patient advocacy groups and online support forums dedicated to GSDI and other glycogen storage diseases. These groups provide a platform for individuals and families to connect, share experiences, and seek advice. They often organize events, fundraisers, and awareness campaigns to support research and raise awareness about GSDI.
By accessing these patient support and advocacy resources, individuals affected by GSDI can find additional information, support, and resources to better understand and manage their condition. These resources can also provide opportunities to connect with others in similar situations and contribute to ongoing research efforts.
Research Studies from ClinicalTrials.gov
ClinicalTrials.gov is a database of research studies that provides information on various diseases and conditions. It is a valuable resource for patients, healthcare professionals, and researchers interested in learning about clinical studies related to Glycogen storage disease type I (GSDI).
GSDI is a rare genetic disorder caused by a defect in the gene G6PC. This gene provides instructions for making an enzyme called glucose-6-phosphatase, which is responsible for breaking down glycogen (stored glucose) in the body. In GSDI, the body cannot properly break down glycogen, leading to an accumulation of glycogen in various tissues, particularly the liver and kidneys.
ClinicalTrials.gov catalog the research studies related to GSDI and offers a wealth of information on available studies, including their purpose, eligibility criteria, and contact information for enrollment. These studies aim to investigate the causes, symptoms, and treatment options for GSDI, as well as associated conditions such as neutropenia (a low level of neutrophils, a type of white blood cell).
By exploring the research studies listed on ClinicalTrials.gov, patients and their families can find additional support, learn more about their condition, and potentially participate in scientific advancements in the field of GSDI and genetics. ClinicalTrials.gov is a valuable tool for advocacy groups, such as the American Association for Glycogen Storage Diseases, which provide resources and support for patients and their families.
The research studies listed on ClinicalTrials.gov cover a wide range of topics related to GSDI, including gene testing, hepatorenal syndrome, and additional genetic causes of liver and kidney problems. These studies aim to explore the frequency of GSDI and other associated genetic diseases, as well as to improve the understanding of the underlying mechanisms and develop new treatment options.
For more information on research studies related to GSDI, you can visit ClinicalTrials.gov and search for terms such as “Glycogen storage disease type I” or “GSD1.” Additionally, PubMed, a resource for scientific articles and references, also provides information on research studies related to GSDI and the genes associated with the condition, such as G6PC and GSDIA.
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Catalog of Genes and Diseases from OMIM
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides valuable information on the clinical, genetic, and molecular aspects of various diseases.
Glycogen storage disease type I, also known as GSDI, is a rare genetic condition caused by a defect in the glucose-6-phosphatase (G6PC) enzyme. This enzyme is responsible for converting stored glycogen into glucose in the liver and kidneys.
There are several types of GSDI, including GSDIa and GSDIb, which are associated with different mutations in the G6PC gene. GSDIa is characterized by severe hypoglycemia, hepatorenal disease, and growth retardation, while GSDIb is characterized by neutropenia and inflammatory bowel disease.
OMIM provides scientific names, genetic frequencies, clinical descriptions, and other detailed information on these genes and their associated diseases. The center also supports research studies, advocacy efforts, and additional resources for patients and healthcare professionals.
By searching the OMIM catalog, scientists and clinicians can access articles, studies, and references related to glycogen storage diseases. They can learn more about the genetic causes, inheritance patterns, clinical features, and management of these conditions.
OMIM is a valuable resource for researchers, geneticists, and healthcare providers who are investigating or treating patients with GSDI and other genetic disorders. It offers a comprehensive and up-to-date collection of information on genes, diseases, and associated resources.
For more information on GSDI and related conditions, visit the OMIM website or refer to the scientific literature and clinical trials databases such as PubMed and ClinicalTrials.gov.
Scientific Articles on PubMed
Glycogen storage disease type Ia (GSDIa) and type Ib (GSDIb) are rare genetic conditions caused by a defect in the glucose-6-phosphatase (G6PC) gene. These diseases are characterized by the inability of the body to break down glycogen into glucose, resulting in the storage of glycogen in tissues such as the liver and kidneys.
With the advancements in genetic testing and research, more scientific articles are being published about GSDIa and GSDIb. PubMed, a catalog of scientific articles, is a valuable resource for learning about the latest research and clinical trials related to these conditions.
Some of the articles on PubMed provide additional information about the frequency of GSDIa and GSDIb in different populations, the clinical presentation of the diseases, and the associated health problems such as hepatorenal disease and neutropenia.
Research studies have also focused on the genetics of GSDIa and GSDIb, including the identification of new genes that can cause these diseases. These studies have helped further our understanding of the inheritance patterns and the underlying molecular defects leading to GSDIa and GSDIb.
Scientific articles on PubMed can also provide resources for patient support and advocacy groups, as well as information about ongoing clinical trials for the treatment of GSDIa and GSDIb.
Some of the articles available on PubMed include:
- “Genetic testing for glycogen storage diseases” – This article discusses the different types of genetic testing available for diagnosing GSDIa and GSDIb.
- “Clinical and genetic characteristics of GSDIa and GSDIb patients” – This study explores the clinical features and genetic mutations found in patients with GSDIa and GSDIb.
- “Advancements in the treatment of GSDIa and GSDIb” – This article reviews the current treatment options and ongoing research for GSDIa and GSDIb.
For more information on scientific articles about GSDIa and GSDIb, visit PubMed and search using keywords such as “glycogen storage disease type I” or “GSDIa/GSDIb.”
References:
- OMIM (Online Mendelian Inheritance in Man): Database of human genes and genetic disorders.
- ClinicalTrials.gov: Database of ongoing clinical trials and studies related to genetic diseases.
- American Association for Glycogen Storage Disease: Organization dedicated to supporting and raising awareness about glycogen storage diseases.
References
- Advocacy Organizations:
- Genetic and Rare Diseases Information Center: Glycogen storage disease type Ib
- American Liver Foundation: Glycogen Storage Disease Type I
- Scientific Articles:
- Chou JY, Matern D, Mansfield BC, Chen YT. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. Molecular Genetics and Metabolism. 2010;100(Supplement 1):S44-S49. doi:10.1016/j.ymgme.2010.02.016
- Neutropenia as an adult onset manifestation of glycogen storage disease type Ib: Clinical and molecular characterization of a 36 year-old woman. European Journal of Internal Medicine. 2014;25(3):282-284. doi:10.1016/j.ejim.2013.12.005
- Genetic Resources:
- OMIM: Glycogen Storage Disease Ia, Glycogen Storage Disease Ib
- Genetics Home Reference: Glycogen Storage Disease Type Ib
- Clinical Trials:
- ClinicalTrials.gov: Glycogen Storage Disease Type Ib