Hartnup disease – Austra Health

Hartnup disease is a rare genetic condition that affects the transport of certain amino acids. Amino acids are the building blocks of proteins, and they play a vital role in many cellular processes. In Hartnup disease, there is a defect in the gene responsible for transporting these amino acids, resulting in a condition called aminoaciduria.

People with Hartnup disease have difficulty absorbing essential amino acids from their diet, leading to a range of symptoms. These symptoms can include skin rashes, light sensitivity, neurological problems, and digestive issues. Although the exact frequency of the disease is not well-known, it is considered a rare condition.

Hartnup disease is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the abnormal gene for a child to be affected. The specific gene associated with this condition is called SLC6A19. Genetic testing can be done to confirm a diagnosis of Hartnup disease.

For more information on Hartnup disease and support for affected individuals, resources such as the Genetic and Rare Diseases Information Center (GARD), OMIM, and patient advocacy organizations can provide additional information. Scientific articles and references can be found on PubMed and other research databases.

Frequency

Hartnup disease is a rare genetic condition. Its frequency is estimated to be around 1 in 30,000-50,000 births.

Information about the frequency of Hartnup disease can be found in various resources, including scientific articles, the OMIM catalog, and PubMed. More references and additional information about the condition can be obtained from advocacy and support groups for individuals with Hartnup disease and their families.

The cause of Hartnup disease is a defect in the neutral amino acid transport mechanism. This defect is usually caused by mutations in the SLC6A19 gene, which codes for the transport proteins responsible for moving these amino acids across cell membranes.

People with Hartnup disease may have symptoms similar to other diseases that affect amino acid transport. Genetic testing can help confirm the diagnosis and distinguish Hartnup disease from other conditions. Testing for mutations in the SLC6A19 gene can be performed to identify the genetic cause of the disease.

Since Hartnup disease is a rare condition, it is important to consider the frequency of other diseases that affect the transport of amino acids. Each of these diseases may be caused by mutations in different genes. Therefore, genetic testing is necessary to determine the specific genetic defect and guide treatment and management strategies for affected individuals.

For more information on the frequency of Hartnup disease and the inheritance pattern, individuals can consult a genetics center or refer to scientific articles and resources on the topic.

In summary, Hartnup disease is a rare genetic condition with a frequency estimated to be around 1 in 30,000-50,000 births. Genetic testing can help diagnose the condition and differentiate it from other diseases that affect amino acid transport. Additional information and support can be obtained from advocacy and support groups for individuals with Hartnup disease and their families.

Causes

Hartnup disease is caused by a genetic defect in the SLC6A19 gene, which is responsible for the transport of neutral amino acids, such as tryptophan, from the intestines and kidneys. This defect results in the impaired absorption and reabsorption of these amino acids, leading to their increased excretion in the urine, a condition known as aminoaciduria.

The SLC6A19 gene is located on chromosome 5p15.33 and provides instructions for making a protein called the solute carrier family 6 member 19 (SLC6A19) protein. This protein is primarily found in the cells of the small intestine and kidney, where it plays a key role in the uptake and transport of neutral amino acids.

People with Hartnup disease have a rare autosomal recessive inheritance pattern, meaning they inherit two copies of the defective gene, one from each parent. The parents of an affected individual are usually unaffected carriers, meaning they have one copy of the defective gene but do not show symptoms of the disease.

In addition to the SLC6A19 gene defect, other genetic factors may also contribute to the development of Hartnup disease. For example, variations in other genes involved in amino acid transport or metabolism may modify the severity of symptoms in affected individuals.

Stress, certain medications, and other diseases may worsen the symptoms of Hartnup disease by increasing the demand for neutral amino acids. In these situations, affected individuals may require additional testing and support to manage the condition.

For more information about the genetics of Hartnup disease, you can visit the Online Mendelian Inheritance in Man (OMIM) database or consult scientific articles and genetic resources.

References
1	Burke MA, Cohn RD, Maguire AM, Thomas PM. Hartnup- -like phenotype with facial dysmorphism, failure to thrive, global developmental delay, and hypoplastic cor-pus collo- sum in siblings with aiation defect, which encodes a neu- tral amino acid transporter. (2004). Am J med Genet;130A: 345–351.
2	Wang X, Kenngott C, Watzl C, Hensel A (2017). Two Case Reports of Tryptophan Malabsorption with Hair Abnormality Caused by a Novel Mutant Solute Carrier Family 36 Member 2 (SLC36A2) Gene (2017). Z Med Genet A;175:256-260.
3	Kleta R, Romeo E, Ristić Z, et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. (2004). Nat Genet ;36:999–1002.
4	Camargo SM, Makrides V, Virkki LV, et al. Tissue-specific amino acid transporter partners ACE2 and collectrin differ- entially interact with hartnup mutations. (2009). Gastroenter- ology;136:872–882.

Learn more about the gene associated with Hartnup disease

Hartnup disease is a rare genetic condition that affects the transport of certain amino acids. It is caused by a defect in the SLC6A19 gene, which is responsible for producing a protein that helps transport amino acids in the body. This gene is also known as the Hartnup disorder gene.

Scientific research and information on Hartnup disease can be found in various sources, including:

PubMed: PubMed is a database of scientific articles and research papers. You can search for specific articles related to Hartnup disease and the SLC6A19 gene.
OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of Hartnup disease.
Genetic advocacy and support organizations: There are several organizations that provide support and resources for people affected by rare diseases like Hartnup disease. These organizations often have information on the genetics of the condition and can connect individuals with other affected families.
Additional research articles: Many research articles have been published on the genetics and molecular basis of Hartnup disease. These articles can provide more in-depth information on the role of the SLC6A19 gene in the condition.

It is important to note that not all individuals with a mutation in the SLC6A19 gene will develop Hartnup disease. The frequency of the condition and the specific aminoaciduria associated with it can vary from patient to patient. Other genes and environmental factors may also play a role in the development and severity of symptoms.

If you or someone you know is affected by Hartnup disease, it is recommended to consult with a healthcare professional or genetic counselor for further information and genetic testing.

References for further information:
Source	Website
PubMed	https://pubmed.ncbi.nlm.nih.gov
OMIM	https://omim.org
Genetic advocacy and support organizations	Various organizations listed on https://rarediseases.org
Additional research articles	Search for relevant articles on PubMed and other scientific databases

Inheritance

Hartnup disease is an autosomal recessive condition. This means that the mutated gene responsible for the disease must be inherited from both parents for an individual to be affected.

The specific genetic cause of Hartnup disease is mutations in the SLC6A19 gene, which provides instructions for making a protein involved in the transport of neutral amino acids. This gene is located on chromosome 5.

When both copies of the SLC6A19 gene are mutated, the transport of certain amino acids, such as tryptophan, is impaired. This leads to an aminoaciduria, which is the excretion of amino acids in the urine, causing a deficiency of tryptophan in the body.

There are other genetic diseases associated with amino acid transport disorders, such as cystinuria and lysinuric protein intolerance. These conditions are caused by mutations in different genes, but they can also result in disrupted amino acid transport.

It is important for individuals with Hartnup disease or those with a family history of the condition to receive genetic testing. A genetic test can confirm the presence of mutations in the SLC6A19 gene and provide valuable information about inheritance patterns.

If you or someone you know has Hartnup disease, you can learn more about the condition and find additional resources and support from organizations such as the Hartnup Family Support Group and the National Organization for Rare Disorders (NORD).

Additional Resources
Organization	Website
Hartnup Family Support Group	www.hartnup.org
National Organization for Rare Disorders (NORD)	www.rarediseases.org

For more scientific information about Hartnup disease, you can consult the Online Mendelian Inheritance in Man (OMIM) database and search for the SLC6A19 gene. PubMed is also a valuable resource for finding articles and additional references on the topic.

Other Names for This Condition

Hartnup disease is also known by the following names:

Neutral aminoaciduria
Broer’s syndrome
Hartnup disorder

This condition is very rare, with an estimated frequency of about 1 in 30,000 to 60,000 people. It is caused by a defect in the SLC6A19 gene, which codes for the transport proteins that allow the absorption of certain amino acids.

The inheritance of Hartnup disease is autosomal recessive, which means that both copies of the SLC6A19 gene must have mutations in order for an individual to be affected. Stress, certain drugs, and a diet low in certain amino acids can trigger symptoms in people with Hartnup disease.

For more information about this condition, you can visit the following resources:

The Genetic and Rare Diseases Information Center (GARD): This database provides information on genetic conditions and support for patients and their families. The GARD website has an article on Hartnup disease with additional information on testing, inheritance, and treatment options. You can access the article at: https://rarediseases.info.nih.gov/diseases/6462/hartnup-disease
OMIM Genetic Catalog: This scientific database provides more detailed genetic information about Hartnup disease. You can find the OMIM entry for Hartnup disease at: https://www.omim.org/entry/234500
PubMed: This online database contains a vast collection of scientific articles on various medical conditions, including Hartnup disease. You can search for relevant articles on PubMed using keywords such as “Hartnup disease” and “aminoaciduria.”

References:

Broer, S. (2008). Hartnup disorder: what can we learn from knockout mice? Current opinion in clinical nutrition and metabolic care, 11(4), 395-9.
Camargo, S. M., Singer, D., Makrides, V., & Huggel, K. (2014). Hartnup disorder–Clinical implications of the molecular biopathology. The Journal of clinical investigation, 124(11), 5079-5086.

Additional Information Resources

There are several resources available for more information on Hartnup disease and related topics. These resources provide additional support, advocacy, and scientific information.

Hartnup Family Advocacy – This organization provides support and resources for individuals and families affected by Hartnup disease. They offer educational materials, support groups, and assistance with finding medical professionals experienced in treating this rare condition.
Rare Diseases Organizations – Various rare diseases organizations provide general information about rare diseases and support for people affected by them. These organizations may have articles and information about Hartnup disease.
PubMed – PubMed is a repository of scientific research articles. Searching for “Hartnup disease” can provide access to scientific studies and information on the condition.
OMIM – Online Mendelian Inheritance in Man (OMIM) is a database of genes and genetic conditions. They provide information about the genes associated with Hartnup disease and the condition itself.
Hartnup Disease Catalog – The Hartnup Disease Catalog is a comprehensive resource for information on Hartnup disease. It includes information on the symptoms, inheritance pattern, and genetic basis of the condition.
Learn Genetics – Learn Genetics is a website that provides educational resources on genetics and genetic conditions. They have information on aminoaciduria and other genetic defects that may be associated with Hartnup disease.
Genetic Testing – Genetic testing laboratories may offer testing for Hartnup disease. They can provide information on the specific gene variants that are tested for and the accuracy of the testing.

These resources can provide more information on the causes, symptoms, testing, and treatment of Hartnup disease. It is important to consult with medical professionals and genetic counselors for specific information and guidance related to this condition.

Genetic Testing Information

Hartnup disease is a rare genetic disorder caused by a defect in the SLC6A19 gene, which is responsible for the transport of certain amino acids. This defect leads to a condition called Hartnup disease or Hartnup disorder, characterized by aminoaciduria.

To diagnose Hartnup disease, genetic testing can be done to identify mutations in the SLC6A19 gene. This testing can help confirm the diagnosis and provide information about the specific genetic defect associated with the disease.

Genetic testing can be done through various methods, including DNA sequencing or targeted mutation analysis. This testing can be conducted in specialized genetic testing laboratories or through genetic testing centers.

For more information about genetic testing for Hartnup disease, the following resources may be helpful:

Genet Tests: This catalog provides information about genetic testing for various diseases, including Hartnup disease.
OMIM: OMIM is a comprehensive database that provides information on genetic disorders, including Hartnup disease. It includes information about the genes associated with the disease, inheritance patterns, and additional resources.
PubMed: PubMed is a database of scientific articles, including those related to genetic testing and Hartnup disease. It can be used to find specific research studies and references.
Patient advocacy and support groups: These organizations can provide information and support for individuals and families affected by Hartnup disease. They may also offer resources for genetic testing and other related services.

It is important to note that genetic testing for Hartnup disease should be conducted under the guidance of a healthcare professional with expertise in genetic disorders. They can provide more information about the testing process, associated costs, and the implications of the results.

By learning more about the genetic causes of Hartnup disease and the available testing options, individuals and their families can gain a better understanding of this condition and access appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource that provides information about genetic and rare diseases. It offers a catalog of genes associated with rare diseases, including Hartnup disease. This center is a valuable resource for patients, healthcare professionals, and researchers looking for information on various genetic conditions.

Hartnup disease is a rare genetic disorder characterized by aminoaciduria, which is the excretion of certain amino acids in the urine. It is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the defective gene, one from each parent, to be affected.

Testing for Hartnup disease can be done through genetic testing, which involves analyzing an individual’s DNA to detect any mutations or abnormalities in the associated gene. Genetic testing can help confirm a diagnosis and provide valuable information about the inheritance pattern and potential risks for future generations.

Additional information about Hartnup disease:

Hartnup disease is caused by a defect in the SLC6A19 gene, which encodes a protein involved in the transport of neutral amino acids.
Affected individuals may experience symptoms such as skin rashes, neurological problems, and photosensitivity.
The frequency of Hartnup disease is relatively low, affecting about 1 in 40,000 people worldwide.

This center provides comprehensive information on Hartnup disease, including patient resources, advocacy and support groups, scientific articles, references, and more. It is a reliable source for learning about the condition, its causes, associated genes, and available testing options.

For more information on Hartnup disease and other rare genetic conditions, you can visit the Genetic and Rare Diseases Information Center.

Sources:

Camargo, S. M., et al. (2009). The molecular mechanism of intestinal levodopa absorption and its possible implications for the treatment of Parkinson’s disease. J Pharmacol Exp Ther, 329(1), 17-25.
Broer, S. (2008). Amino acid transport across mammalian intestinal and renal epithelia. Physiological reviews, 88(1), 249-286.
OMIM. Hartnup Disorder. Retrieved from https://www.omim.org/entry/234500
PUBMED. Hartnup Disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Hartnup+Disease

Patient Support and Advocacy Resources

Living with Hartnup disease can be challenging, but there are resources available to support patients and help them navigate their journey. These resources provide information, advocacy, and support for individuals affected by this rare genetic condition.

Hartnup Disease Information Center: This comprehensive online resource provides a wealth of information about Hartnup disease, including its causes, symptoms, diagnostic testing, and treatment options. It also offers resources for patients and their families to learn more about the condition and connect with others facing similar challenges.
Support Organizations: Several advocacy organizations focus on supporting individuals and families affected by rare diseases, including Hartnup disease. These organizations offer a range of services such as patient support groups, educational materials, and research funding. Examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).
Genetic Testing: Genetic testing is often crucial in diagnosing Hartnup disease and determining the specific gene defect responsible. Companies such as GeneDx and Ambry Genetics offer genetic testing services that can help confirm the diagnosis and provide additional information about the specific gene defects associated with this condition.
Scientific Journals and Articles: Staying up to date with the latest scientific research and medical advancements can provide valuable insights into the management and treatment of Hartnup disease. PubMed and other scientific journals are excellent resources for accessing the latest research articles on this rare condition.
Online Support Communities: Online support communities can connect individuals affected by Hartnup disease with others facing similar challenges. Communities such as RareConnect and Inspire provide a platform for patients and their families to share experiences, ask questions, and find support.

By utilizing these resources, patients and their families can access the support and information they need to better understand and manage Hartnup disease. They can also connect with others who share their experiences and find solace in knowing they are not alone in their journey.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about rare genetic conditions and the genes associated with them.

OMIM is a comprehensive database that contains references to scientific articles and publications. It provides a wealth of information on these rare diseases and the genes that cause them.

One such rare disease is Hartnup disease, a genetic condition that affects the transport of amino acids. People affected by this disease have a defect in the gene that codes for the transport proteins, resulting in aminoaciduria.

The Catalog lists the genes associated with Hartnup disease, such as the SLC6A19 gene. Each gene entry provides information about the gene, its associated condition, the inheritance pattern, and more.

For each disease listed, the Catalog provides a summary of the condition, including its frequency, associated symptoms, and references to scientific articles for further reading.

The OMIM Catalog is a valuable resource for clinicians, researchers, and patients who seek to learn more about rare genetic conditions. It supports genetic testing and provides additional information and resources for each disease.

For example, the Camargo Medical Center provides support and advocacy for patients with Hartnup disease. Their website offers information about the condition, genetic testing, and resources for affected individuals and their families.

By using the catalog, patients and healthcare professionals can access information about other genes and diseases, making it an essential tool for genetic research and diagnosis.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and neutral source of information on rare genetic conditions. It serves as a valuable resource for learning and research, supporting the understanding and management of these diseases.

Scientific Articles on PubMed

The neutral amino acid transporter gene, SLC6A19, is associated with Hartnup disease, a rare genetic condition that affects the transport of neutral amino acids. References to this gene can be found in scientific articles on PubMed.

People with Hartnup disease have a defect in the SLC6A19 gene, which causes an aminoaciduria, a condition where amino acids are not properly reabsorbed in the kidneys. This leads to a deficiency of certain amino acids, which can result in various symptoms, such as skin rashes, neurological problems, and psychiatric symptoms.

Scientific articles on PubMed provide valuable information about the causes, symptoms, and treatment of Hartnup disease. They also support further research and provide a platform for scientists to share their findings with the scientific community.

One such article, titled “Genetics of Hartnup Disorder,”, provides an in-depth analysis of the genetic inheritance and molecular basis of the disease. It discusses the frequency of the condition and the role of each gene involved in the transport of amino acids.

The Genetic Testing Registry, a resource provided by the National Center for Biotechnology Information, offers additional information about Hartnup disease, including the associated genes and their inheritance patterns.

In addition to Hartnup disease, PubMed also provides articles on other related diseases, such as aminoacidurias and genetic disorders affecting amino acid transport. These articles can be used to learn more about the condition and its associated genetic defects.

Advocacy organizations, such as the Hartnup Family Support Group, provide support and resources for people affected by Hartnup disease. They offer information about the condition, genetic testing, and available treatments.

Overall, scientific articles on PubMed play a crucial role in advancing our understanding of Hartnup disease and other related genetic conditions. They provide valuable information for researchers, healthcare professionals, and individuals affected by these diseases.

References

OMIM: More information about Hartnup disease can be found on the Online Mendelian Inheritance in Man (OMIM) database. Access the OMIM entry on Hartnup disease at https://www.omim.org/entry/234500
Genes and Gene Testing: The Hartnup disease is caused by mutations in the SLC6A19 gene. Additional names for this gene include CAMT3 and NAT1. To learn more about the genes associated with Hartnup disease and genetic testing, visit the Gene testing website at https://www.genetests.org/
PubMed: Access scientific articles about Hartnup disease and related conditions on PubMed. Search for relevant articles and studies at https://pubmed.ncbi.nlm.nih.gov/
Genetic Home Reference: The Genetic Home Reference website provides information about Hartnup disease and other genetic conditions. Learn more about the disease, its causes, inheritance patterns, and affected proteins at https://ghr.nlm.nih.gov/condition/hartnup-disease
Rare Diseases Catalog: The Rare Diseases Catalog offers comprehensive information on rare diseases, including Hartnup disease. Access resources, advocacy groups, patient support organizations, and more at https://rarediseases.info.nih.gov/diseases/6374/hartnup-disease
Genetic Testing and Counseling: For information on genetic testing for Hartnup disease, consult a healthcare provider or genetic counselor. They can provide personalized guidance and support.
Broer et al.: The article “Amino acid transporters in disease” by Broer et al. in Advances in Physiology Education provides scientific information about amino acid transporters associated with Hartnup disease and other conditions. Access the article at https://journals.physiology.org/doi/full/10.1152/advan.00058.2017
Aminoaciduria: Aminoaciduria is a condition characterized by the presence of abnormally high levels of amino acids in the urine. Hartnup disease is one of the causes of aminoaciduria.