Galactosemia is a rare genetic condition that causes severe symptoms in newborns. It is inherited in a simple autosomal recessive manner, meaning that both parents must carry a defective gene for the condition to occur in their child. The condition is caused by a deficiency in an enzyme called galactose-1-phosphate uridyltransferase (GALT), which is responsible for the breakdown of galactose, a sugar found in milk and other dairy products.

Classic galactosemia is the most severe form of the condition and can lead to serious complications if left untreated. Newborns with classic galactosemia typically experience feeding difficulties, liver problems, and delayed growth. If not diagnosed and treated promptly, the condition can lead to permanent intellectual disability and other long-term health issues.

To diagnose galactosemia, genetic testing is typically performed to look for mutations in the GALT gene. This can be done through laboratories that specialize in genetic testing, as well as through research studies. Additional support and information for patients and their families can be found through advocacy organizations, such as the Genetic and Rare Diseases Information Center and the Galactosemia Foundation.

Although galactosemia is a rare condition, it is important for healthcare professionals to be aware of its symptoms and to promptly refer affected individuals for testing and appropriate treatment. Early diagnosis and dietary management can help prevent severe complications and improve the long-term outlook for individuals with galactosemia.

Frequency

Galactosemia is a rare genetic condition that causes severe diseases in newborns. The frequency of this condition is relatively low, estimated to be about 1 in every 30,000 to 60,000 newborns.

Classic galactosemia is associated with a deficiency in the gene GALT, which encodes for the enzyme galactose-1-phosphate uridylyltransferase. This gene mutation leads to the failure of converting galactose into glucose, resulting in the accumulation of toxic substances in the body.

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There are several rare variants of galactosemia caused by mutations in other genes, such as GALK1, GALE, and GALT-epimerase. These variants have a delayed or milder presentation compared to classic galactosemia.

The frequency of these rare variants is less known, as they are not as well-studied as classic galactosemia. However, with advances in genetic testing and research, more information is becoming available about the frequency and function of these genes.

Scientific articles, clinical trials, and genetic testing resources provide additional information about the frequency and inheritance of galactosemia. Patient advocacy groups and support centers can also offer support and resources for learning about galactosemia and connecting with other affected individuals.

References:

• GeneReviews: Galactosemia
• OMIM: Galactosemia
• PubMed: Galactosemia

Causes

The main cause of galactosemia is a genetic condition. It is caused by mutations in genes that are involved in the breakdown of galactose, a sugar found in milk and other dairy products. The most common genes associated with galactosemia are the GALT, GALK1, and GALE genes.

Galactosemia is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to have the condition. If both parents are carriers, each of their children has a 25% chance of inheriting galactosemia.

There are different types of galactosemia, including classic galactosemia, galactokinase deficiency, and epimerase deficiency. The severity of the condition varies depending on the specific gene mutation involved.

Classic galactosemia is the most severe form of the condition. It is caused by mutations in the GALT gene, which disrupts the function of the galactose-1-phosphate uridylyltransferase enzyme. This enzyme is responsible for converting galactose into glucose, a form of sugar that can be used by the body for energy. In individuals with classic galactosemia, galactose builds up in the blood and can cause damage to various organs and tissues.

Galactokinase deficiency is caused by mutations in the GALK1 gene, which affects the function of the galactokinase enzyme. This enzyme is responsible for converting galactose into galactose-1-phosphate. In individuals with galactokinase deficiency, galactose accumulates in the blood and can lead to cataracts and other eye problems.

Epimerase deficiency is caused by mutations in the GALE gene, which affects the function of the UDP-galactose-4-epimerase enzyme. This enzyme is responsible for converting UDP-galactose into UDP-glucose. In individuals with epimerase deficiency, galactose accumulates in the blood and can cause similar symptoms to classic galactosemia.

Galactosemia is a rare condition, affecting approximately 1 in 30,000 to 60,000 newborns worldwide. It is more common in certain ethnic groups, such as individuals of Irish, African American, and East Asian descent.

Diagnosis of galactosemia is typically done through newborn screening, which involves testing a small blood sample from a newborn baby. Genetic testing can also be done to confirm the diagnosis and identify the specific gene mutations involved.

References:

• Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1518/

• Lactose intolerance. Gale – Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/9234/lactose-intolerance

• Galactosemia. OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/entry/230400

• ClinicalTrials.gov. Available from: https://clinicaltrials.gov

• PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov

• Galactosemia. Genet Home Ref Guide. Available from: https://ghr.nlm.nih.gov/condition/galactosemia

Learn more about the genes associated with Galactosemia

Galactosemia is a rare genetic condition that affects the body’s ability to process galactose, a simple sugar found in dairy products and some fruits and vegetables. It is caused by mutations in the GALT, GALE, or GALK1 genes.

The GALT gene provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase, which is essential for breaking down galactose. Mutations in this gene result in classic galactosemia, the most severe form of the condition.

The GALE gene provides instructions for making an enzyme called UDP-galactose-4-epimerase, which helps convert a different form of galactose into glucose. Mutations in this gene can cause a milder form of galactosemia known as epimerase deficiency galactosemia.

The GALK1 gene provides instructions for making an enzyme called galactokinase 1, which helps convert galactose into galactose-1-phosphate. Mutations in this gene can result in a rare form of galactosemia called galactokinase deficiency.

Genetic testing can be done to identify mutations in these genes, which can confirm a diagnosis of galactosemia in newborns or individuals suspected of having the condition. Testing can also be useful for carrier screening and prenatal diagnosis.

Galactosemia is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have galactosemia.

Learn more about galactosemia and the genes associated with this condition from resources such as GeneReviews, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center.

• GeneReviews on Galactosemia
• OMIM – Galactosemia
• Genetic and Rare Diseases Information Center – Classic Galactosemia

These resources provide comprehensive information about the clinical features, inheritance, and genetic causes of galactosemia. They are valuable references for healthcare professionals, researchers, and patient advocacy groups.

Additional research studies and clinical trials can be found on websites such as PubMed and ClinicalTrials.gov. These resources provide information about ongoing research, new treatments, and potential therapeutic options for galactosemia patients.

By learning more about the genes associated with galactosemia, healthcare providers and researchers can better understand the underlying causes of the condition and work towards improving diagnostic accuracy, treatment options, and support for affected individuals and their families.

Inheritance

Galactosemia is an inherited metabolic disorder that causes a deficiency in the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is responsible for converting galactose into glucose. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the GALT gene for their child to have the condition.

Newborns with galactosemia are unable to break down galactose, a sugar found in lactose, and as a result, galactose builds up in their system. This can lead to a range of symptoms, including delayed growth and development, liver damage, cataracts, and intellectual disability.

The genes responsible for galactosemia are located on chromosome 9, and there are four known types of galactosemia: classic galactosemia, galactokinase deficiency, epimerase deficiency, and transferase deficiency. Classic galactosemia is the most severe form of the condition, while galactokinase deficiency and epimerase deficiency are milder. Transferase deficiency is extremely rare.

Diagnosis of galactosemia can be made through genetic testing, which looks for mutations in the GALT gene. In some cases, a simple blood test may also be used to measure the levels of galactose in the blood. Additional information on genetic testing and diagnosis can be found on the OMIM or Genetests websites.

Treatment for galactosemia involves removing galactose from the diet. This usually means avoiding all dairy products and foods that contain lactose. It is important for patients with galactosemia to follow a strict diet to prevent the buildup of galactose and the associated complications.

Support and advocacy groups are available for individuals with galactosemia and their families. These groups provide information, resources, and support to help patients and their families learn about the condition and manage its effects. Some organizations that provide support for galactosemia include the Galactosemia Foundation, the National Organization for Rare Disorders (NORD), and the Global Genes RARE Project.

Research studies on galactosemia are ongoing, and clinical trials are being conducted to evaluate potential treatments and interventions for the condition. Information on current clinical trials can be found on the ClinicalTrials.gov website.

For more information on galactosemia, you can also read scientific articles, consult medical textbooks, or visit the websites of reputable medical centers and organizations dedicated to rare genetic diseases.

Other Names for This Condition

The condition more commonly known as galactosemia has several other names:

• Classic galactosemia
• Galactose-1-phosphate uridylyltransferase deficiency
• GALT deficiency
• Galactokinase deficiency
• UDP-galactose-4-epimerase deficiency

These names are all used to describe the same rare condition that affects the body’s ability to process galactose, a simple sugar found in milk and other dairy products.

Galactosemia is typically diagnosed in newborns through newborn screening tests, which detect the genetic causes and metabolic abnormalities associated with the condition. If left untreated, galactosemia can lead to serious health problems, including delayed growth and development, liver damage, and cognitive impairment.

For more information on galactosemia, other rare diseases, and genetic testing, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information on the genes associated with galactosemia and other genetic disorders.
• GeneReviews: This comprehensive online resource offers in-depth articles on the clinical features, inheritance patterns, and genetic testing for various conditions, including galactosemia.
• PubMed: A searchable database of scientific research articles on galactosemia and related topics.
• ClinicalTrials.gov: This government-run website lists ongoing clinical trials and research studies related to galactosemia and other diseases.
• GALACTOSEMIA.ORG: This website provides support and advocacy for individuals and families affected by galactosemia. It offers resources and information on research, clinical trials, and genetic testing.

Additional Information Resources

Here are some additional resources where you can learn more about Galactosemia:

• GeneReviews: This website provides in-depth information about the frequency, inheritance, and clinical manifestations of Galactosemia. It also offers information on genetic testing and management of the condition. https://www.genereviews.org/
• ClinicalTrials.gov: This database provides information on ongoing clinical studies and research related to Galactosemia. You can find studies that are currently recruiting patients or those that have already been completed. https://clinicaltrials.gov/
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the genes associated with Galactosemia and other related conditions on this website. https://www.ncbi.nlm.nih.gov/omim
• GALactosemIA (GALIA): GALIA is a scientific center dedicated to research and advocacy for Galactosemia. Their website provides information about the condition, patient support, and resources for healthcare professionals. http://www.galia.org/
• GALactosemIA Network (GALNet): GALNet is an international network of researchers and clinicians focusing on Galactosemia. They provide information on clinical guidelines, scientific publications, and educational resources. https://www.galactosemianetwork.org/
• GALT Deficiency – PubMed: PubMed is a database of scientific articles. Searching for “GALT deficiency” on PubMed will provide you with a list of research studies and articles related to Galactosemia. https://pubmed.ncbi.nlm.nih.gov/
• GALT Deficiency – Gale Encyclopedia of Genetic Disorders: This resource offers a simple overview of Galactosemia, its causes, symptoms, diagnosis, and treatment. It also provides information on inheritance patterns and genetic testing. https://www.ncbi.nlm.nih.gov/books/NBK27922/

These additional resources can provide you with more information about Galactosemia, its associated genes, and the support available for patients and families affected by this condition.

Genetic Testing Information

Genetic testing is an important tool for the diagnosis and management of galactosemia. It helps to identify the specific genetic mutations that cause the inherited condition, allowing for targeted treatment and counseling.

Galactosemia is a rare genetic disorder that affects the body’s ability to process galactose, a sugar found in milk and other dairy products. It is typically caused by mutations in the GALT gene, which codes for the enzyme galactose-1-phosphate uridylyltransferase.

There are different types of galactosemia, including classic galactosemia, galactokinase deficiency, and epimerase deficiency. Classic galactosemia is the most severe form of the condition, while the other types are usually associated with less severe symptoms.

Genetic testing can determine if a person has galactosemia by examining their DNA for mutations in the GALT gene. It can also identify carriers of the condition, who have one mutated copy of the gene but do not have symptoms. Testing can be done for newborns through newborn screening programs, as well as for individuals with symptoms or a family history of the condition.

The results of genetic testing can provide valuable information for patients and their families. It can help to confirm a diagnosis, guide treatment decisions, and provide information about the inheritance pattern of the condition. It can also support ongoing research and scientific studies on galactosemia.

For more information on genetic testing for galactosemia, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, GeneReviews™, and the Genetic Testing Registry (GTR) at the National Center for Biotechnology Information (NCBI).

In conclusion, genetic testing plays a vital role in diagnosing and managing galactosemia. It provides essential information about the specific genetic mutations causing the condition, supports research efforts, and helps patients and their families make informed decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource providing information about genetic and rare diseases, including Galactosemia. GARD provides information on testing, deficiency, genes, inheritance pattern, and additional resources for patients and researchers.

Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. This condition is typically caused by a deficiency in one of three genes – GALT, GALE, or GALK1, which encode proteins necessary for galactose metabolism. The inheritance pattern of Galactosemia is often autosomal recessive, meaning that both parents must carry a mutated gene for a child to be affected by the condition.

Classic Galactosemia is the most severe form of the condition and can cause significant health problems if not properly managed. Symptoms may include feeding difficulties, failure to thrive, liver damage, delayed development, and intellectual disabilities. Newborn screening tests can detect Galactosemia in newborns, allowing for early intervention and treatment.

People with Galactosemia must adhere to a strict galactose-free diet throughout their lives to prevent the build-up of galactose in the body. This diet typically involves avoiding all foods and products containing lactose, galactose, or related substances.

The GARD website provides a wealth of information on Galactosemia, including articles, scientific studies, and patient resources. It also offers links to other trusted sources such as OMIM, PubMed, and GeneReviews® for further research. Patient advocacy groups and clinical trial information can also be found on the GARD website.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on Galactosemia and other rare diseases. It provides information on testing, inheritance patterns, genes associated with the condition, and available resources for patients and researchers. GARD supports the research and understanding of rare diseases, helping to improve the lives of those affected by these conditions.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a critical role in providing information and assistance to individuals and families affected by galactosemia. These resources offer a variety of services, including educational materials, support groups, and assistance navigating the healthcare system.

Below is a list of some patient support and advocacy resources for galactosemia:

• Galactosemia Foundation: The Galactosemia Foundation is a non-profit organization that aims to support individuals and families affected by galactosemia. They provide resources and information on the condition, genetic testing, and dietary management.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization dedicated to supporting individuals with rare diseases. They provide information, resources, and advocacy support for galactosemia and other rare diseases.
• GALACTICA Database: The GALACTICA database is a comprehensive catalog of mutations in the GALE gene, which is associated with galactosemia. It provides information on the genetic variation and clinical outcomes associated with different mutations.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources on a wide range of rare diseases, including galactosemia. Their website offers information on the causes, inheritance, clinical features, and management of the condition.
• Genetests: Genetests is a website that provides comprehensive information on genetic testing for various conditions, including galactosemia. It offers information on the available tests, their clinical utility, and how to access them.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical studies conducted around the world. It provides information on ongoing clinical trials related to galactosemia and other rare diseases, offering opportunities for patients to participate in research studies.

These resources can provide valuable support and information for individuals and families affected by galactosemia. They can help patients learn more about the condition, find healthcare providers experienced in managing galactosemia, connect with other affected individuals and families, and stay informed about the latest research and clinical studies.

It is important for individuals with galactosemia and their families to take advantage of these resources to ensure they have access to the support and information they need to manage the condition effectively.

Research Studies from ClinicalTrialsgov

Galactosemia is a severe condition that typically causes galactosemia in newborns. This condition is caused by a deficiency in galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK), or UDP-glucose-4-epimerase (GALE) enzymes, which are essential for the normal processing of galactose in the body.

Research studies from ClinicalTrialsgov support the development of new treatments and management strategies for galactosemia and other rare diseases. These studies aim to improve patient outcomes and enhance the understanding of the underlying genetic and molecular mechanisms associated with the condition.

For more information about specific research studies on galactosemia and related diseases, you can visit ClinicalTrialsgov, OMIM, Genereviews.org, PubMed, and other scientific resources. These resources provide valuable information on the frequency, inheritance patterns, and function of genes associated with galactosemia.

Some of the studies conducted at this center include:

• Testing the efficacy of new treatments for galactosemia.
• Evaluating the long-term outcomes of patients with galactosemia.
• Investigating the genetic basis of galactosemia and its associated complications.
• Exploring the potential role of gene therapy in treating galactosemia.

Additional research studies are ongoing to learn more about the rare condition of galactosemia. These studies aim to identify novel therapeutic targets, improve diagnostic methods, and enhance the overall understanding of the disease.

For more information about galactosemia, its genetic basis, and available resources, you can refer to the Gale Encyclopedia of Genetic Disorders and Genereviews.org.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases compiled by the Johns Hopkins University Genetic Resource Information Program (GRIPP) Center. It provides a valuable resource for clinicians, researchers, and advocacy groups to learn about and stay up-to-date on various genetic conditions.

OMIM contains articles on a wide range of genetic diseases, including galactosemia. Galactosemia is a rare genetic condition associated with a deficiency in the enzyme that breaks down galactose, a sugar found in milk and other dairy products. This condition causes galactose to build up in the body, leading to severe health problems, especially in newborns.

There are three main types of galactosemia: classic galactosemia, galactokinase deficiency, and galactose epimerase deficiency. Classic galactosemia is the most severe form and is typically detected through newborn screening. Galactokinase deficiency and galactose epimerase deficiency are less severe and have a later onset.

OMIM provides detailed information on the genes associated with galactosemia, including their names, functions, and inheritance patterns. It also includes references to scientific studies and additional resources for further research. OMIM is an invaluable tool for researchers studying the genetic causes of galactosemia and for clinicians providing care to patients with this rare condition.

In addition to OMIM, there are other resources available for genetic testing and support for individuals with galactosemia. The website ClinicalTrials.gov lists ongoing clinical trials related to galactosemia. GeneReviews, an online resource provided by the National Center for Biotechnology Information, offers in-depth clinical information on various genetic conditions, including galactosemia. PubMed is a database of scientific articles that can provide further information on the latest research in galactosemia.

Advocacy groups, such as the Galactosemia Foundation, offer support and resources for individuals and families affected by galactosemia. These organizations provide information on managing the condition, connecting with other families, and raising awareness about galactosemia.

1. Classic galactosemia: This is the most severe form of galactosemia and is typically detected through newborn screening. Without treatment, it can lead to severe complications, including liver failure and delayed development.
2. Galactokinase deficiency: This form of galactosemia results from a deficiency in the enzyme galactokinase. It is typically milder than classic galactosemia and may present with symptoms such as cataracts and delayed development.
3. Galactose epimerase deficiency: This form of galactosemia results from a deficiency in the enzyme galactose epimerase. It is also usually milder than classic galactosemia and may present with symptoms such as cataracts and intellectual disability.

Overall, OMIM and other resources provide critical information and support for individuals and families affected by galactosemia. These resources contribute to ongoing research, enable genetic testing, and offer clinical information to improve patient outcomes.

Scientific Articles on PubMed

Galactosemia is a rare genetic disorder associated with the inability to break down galactose, a sugar found in milk. This condition is typically caused by mutations in the genes GALE, which codes for galactose epimerase, or GALT, which codes for galactose-1-phosphate uridylyltransferase.

Newborns with galactosemia often experience symptoms such as jaundice, liver failure, and delayed development. If left untreated, this condition can lead to severe complications and even death.

Genetic testing is available to diagnose galactosemia, and additional testing may be done to determine the severity of the condition and the specific genes involved. Genetic counselors can provide information and support for families affected by galactosemia.

On PubMed, a catalog of scientific articles, you can find a wealth of research on galactosemia. These articles provide information on the diagnosis, treatment, and management of the condition, as well as studies on the genetic causes and inheritance patterns of galactosemia.

Some of the scientific articles on PubMed include:

• “Genotype-phenotype correlations in classic galactosemia: Insights from the Genereviewsr and OMIM databases”
• “Galactosemia: clinical and molecular aspects”
• “Galactosemia – more than just a GALT deficiency”

These articles shed light on the function of the genes associated with galactosemia and provide valuable information for healthcare professionals and researchers.

For patients and families affected by galactosemia, advocacy groups such as the Galactosemia Foundation provide resources and support. ClinicalTrials.gov also lists ongoing clinical studies and trials related to galactosemia, offering opportunities to learn more and potentially participate in research.

In conclusion, galactosemia is a rare genetic disorder with severe consequences if left untreated. Scientific articles on PubMed offer a wealth of information on the condition, its causes, and potential treatments. Advocacy groups and clinical trial registries provide additional resources and support for those affected by galactosemia.

References

• GeneReviewsR on Galactosemia Testing (source) – Provides additional information about testing for Galactosemia, including genetic testing for the genes that are associated with this severe condition, as well as other diseases that can be tested for using the same gene.
• Genetics Home Reference on Galactosemia (source) – Explains the genetic basis of Galactosemia, including the gene that is typically associated with this condition and the function of that gene. Contains information about inheritance, symptoms, diagnosis, and treatment.
• OMIM on Galactosemia (source) – Provides detailed information on the genetic causes of Galactosemia and the associated clinical features. Contains references to published scientific articles and studies on Galactosemia.
• ClinicalTrials.gov on Galactosemia (source) – Provides information about ongoing clinical trials related to Galactosemia, including studies on new treatments and management approaches. Patients and caregivers can learn more about participating in these trials.
• Galactosemia Foundation (source) – Offers support, advocacy, and resources for individuals and families affected by Galactosemia. Provides information on the condition, its symptoms, and available support networks.
• PubMed on Galactosemia (source) – Provides a comprehensive collection of scientific articles on Galactosemia, including research studies, case reports, and reviews. Allows readers to explore the latest advancements in the field.