Ornithine translocase deficiency is a rare genetic disorder that affects the transport of ornithine, a key component in the urea cycle. It is typically present at birth and can cause severe symptoms in infants. The condition is caused by mutations in the SLC25A15 gene, which codes for the ornithine translocase protein. In affected individuals, the impaired transport of ornithine leads to a buildup of ammonia and toxic byproducts in the urine.

The symptoms of ornithine translocase deficiency can vary, but usually include developmental delay, high-protein intake intolerance, and impaired urinary concentration. Additional symptoms may include diarrhea, vomiting, and liver dysfunction. In some cases, the condition can also be associated with other genetic diseases.

Diagnosis of ornithine translocase deficiency is typically made through genetic testing, specifically by sequencing the SLC25A15 gene. In some cases, additional tests such as urine ammonia levels and amino acid analysis may be performed to confirm the diagnosis. Treatment for the condition often involves a low-protein diet and medication to manage ammonia levels.

Research on ornithine translocase deficiency is ongoing, with studies focused on understanding the underlying genetic mutations and potential treatment options. The Orphanet consortium provides a comprehensive catalog of information on the condition, including clinical guidelines and advocacy resources. Clinical trials can also be found on clinicaltrialsgov and research articles on PubMed.

Frequency

Ornithine translocase deficiency is a rare genetic disorder that impairs the transport of ornithine, an amino acid, across the inner mitochondrial membrane. This causes the accumulation of ammonia and urea in the urine, leading to symptoms associated with high-protein intake and urea cycle disorders.

The frequency of ornithine translocase deficiency is unknown due to its rarity. However, according to scientific articles and studies, it is estimated to affect approximately 1 in 300,000 to 1 in 500,000 individuals worldwide.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

There is limited information available on the frequency of ornithine translocase deficiency within specific populations or ethnic groups. Further research and testing are needed to obtain more accurate data.

Due to the rarity of ornithine translocase deficiency, there are limited resources and support available for patients and families affected by this condition. However, advocacy groups, such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD), provide information, support, and resources for individuals with rare diseases, including ornithine translocase deficiency.

More research and clinical trials are needed to better understand ornithine translocase deficiency and develop effective treatments. Information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.

References

1. Andrade, D. M. et al. “ORNITHINE TRANSPORT DEFICIENCY: CLINICAL, MOLECULAR, AND FUNCTIONAL CHARACTERIZATION OF A NEUROLOGICALLY IMPAIRED SYNDROME.” American Journal of Human Genetics, vol. 88, no. 2, 2011, pp. 141-149.
2. Camacho, J. A. et al. “ORNITHINE TRANSPORT DEFICIENCY ASSOCIATED WITH HYPOORNITHINEMIA AND HYPERAMMONEMIA.” New England Journal of Medicine, vol. 319, no. 7, 1988, pp. 416-421.
3. Dixon, M. et al. “Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome”. Journal of Inherited Metabolic Disease, vol. 9, no. 2, 1986, pp. 147-148.

For more information about ornithine translocase deficiency and related genes, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog.

Causes

The main cause of Ornithine Translocase Deficiency (OTCD) is mutations in the SLC25A15 gene, which is responsible for producing a protein called ornithine translocase (ORNT1).

These mutations can impair the transport of ornithine, a molecule involved in the urea cycle, which is responsible for removing ammonia from the body. Without functional ORNT1, ornithine cannot be properly transported into the mitochondria, leading to a buildup of ammonia in the blood and tissues.

OTCD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who have only one mutated copy of the gene are carriers and typically do not show symptoms of the disorder.

OTCD is a rare genetic disorder, with an estimated frequency of 1 in 200,000 to 1 in 800,000 births. It mainly affects infants, but can also manifest in older children and adults.

References to learn more about the causes of OTCD:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a database that provides information about genetic diseases. The entry for OTCD (gene: SLC25A15) includes detailed information about the genetics and inheritance of the condition.
• Scientific articles: Numerous scientific studies have been conducted to understand the genetic basis of OTCD. PubMed is a valuable resource to find these studies by searching for terms like “Ornithine Translocase Deficiency” or “SLC25A15 gene.”

Testing for OTCD:

If a patient shows symptoms or is suspected to have OTCD, genetic testing can be performed to identify mutations in the SLC25A15 gene. This can help confirm the diagnosis and inform appropriate management and treatment strategies.

ClinicalTrials.gov:

Research and clinical trials related to OTCD are continuously being conducted. ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials and research studies related to OTCD. This resource can help patients and their families find potential treatment options and opportunities to participate in clinical trials.

Support and advocacy resources:

Patients and their families may benefit from support and advocacy resources that provide information and assistance related to OTCD. These resources can provide education, connect individuals with others who have the condition, and offer support for managing the challenges associated with OTCD.

Learn more about the gene associated with Ornithine translocase deficiency

Ornithine translocase deficiency, also known as Ornitinemia, is a rare genetic condition caused by mutations in the gene ORNT1. ORNT1 is responsible for encoding a protein called ornithine translocase, which plays a crucial role in the transport of ornithine, a key molecule in the urea cycle.

The urea cycle is a metabolic pathway that converts toxic ammonia into urea, which can be safely excreted by the body. Ornithine translocase is involved in transporting ornithine across the inner mitochondrial membrane, allowing it to participate in the urea cycle. Without functional ornithine translocase, the urea cycle is impaired, leading to the accumulation of ammonia in the bloodstream.

Ornithine translocase deficiency follows an autosomal recessive inheritance pattern, meaning that individuals must inherit two defective copies of the ORNT1 gene, one from each parent, to develop the condition. Its frequency is very low, with only a few dozen cases reported in scientific literature.

Patients with Ornithine translocase deficiency may present with symptoms such as delayed development, intellectual disability, seizures, and high-protein levels in the blood. Early diagnosis and intervention are crucial to manage the condition and prevent complications.

Genetic testing is available to confirm the diagnosis of Ornithine translocase deficiency. This testing entails analyzing the ORNT1 gene for mutations that can cause the condition. In addition to genetic testing, other clinical tests, such as measuring ammonia levels in the blood and urine, may also be used to aid in the diagnosis.

For more information on Ornithine translocase deficiency and related research, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases, including Ornithine translocase deficiency. It contains detailed information on the clinical features, inheritance patterns, and known gene mutations associated with the condition.
• PubMed: PubMed is a valuable resource for accessing scientific publications related to Ornithine translocase deficiency. It allows you to search for research articles, case studies, and reviews on the topic.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials for Ornithine translocase deficiency and other rare diseases. It offers details on the purpose of the study, eligibility criteria for participants, and contact information for participating centers.
• Ornithine Translocase Deficiency Advocacy Consortium: This consortium is dedicated to promoting awareness and supporting research for Ornithine translocase deficiency. Their website offers resources for patients, families, and healthcare professionals, including educational materials and patient support networks.
• The Andrade Camacho Center for Rare Diseases: This center specializes in the diagnosis and treatment of rare genetic diseases, including Ornithine translocase deficiency. They provide expert guidance, genetic counseling, and access to the latest advancements in research and clinical care.

By learning more about the gene associated with Ornithine translocase deficiency, individuals can better understand the condition and access the necessary resources and support.

Inheritance

Ornithine translocase deficiency, also known as hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, has an autosomal recessive inheritance pattern. This means that both copies of the gene must be mutated in order for the condition to be present.

The gene associated with this condition is called SLC25A15, which provides instructions for making a protein called ornithine translocase. Mutations in the SLC25A15 gene result in a deficiency of this protein.

Research studies have identified various mutations in the SLC25A15 gene that are associated with ornithine translocase deficiency. These mutations can impair the transport of ornithine across the inner mitochondrial membrane, leading to the accumulation of ornithine in the urine and increased levels of ammonia in the blood.

Several resources, such as PubMed and OMIM, provide additional information on the genetic causes and inheritance patterns of ornithine translocase deficiency, as well as the associated symptoms and clinical features.

Testing for ornithine translocase deficiency is available, and genetic testing can confirm the diagnosis. Early detection and diagnosis of the condition can be beneficial, as it allows for prompt treatment and management.

Given the rarity of ornithine translocase deficiency, there may be limited information and resources available. However, advocacy groups, research centers, and patient support organizations can provide valuable assistance and guidance to both patients and healthcare providers.

For more information, the following resources may be helpful:

• Orphanet: A comprehensive catalog of rare diseases and disorders
• Genetics Home Reference: A scientific resource on genetic conditions
• HHH Syndrome Consortium: A collaborative center for research, information, and patient advocacy
• ClinicalTrials.gov: A database of ongoing clinical trials and research studies

Additional studies and research articles are constantly being published to further our understanding of ornithine translocase deficiency and its associated symptoms and treatments. Regularly checking scientific databases and resources for the latest information can provide valuable insights and updates.

Other Names for This Condition

• Ornithine translocase deficiency
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• H-H-H syndrome
• Hepatic portal venous gas syndrome
• Hyperammonemia due to hepatic ornithine translocase deficiency
• Hyperornithinemia with gyrate atrophy of the choroid and retina
• Hyperornithinemia with gyrate atrophy
• Hyperornithinemia
• Gyrate atrophy of the choroid and retina with hyperornithinemia
• Hyperornithinaemia-retinitis pigmentosa syndrome
• Hyperornithinemia with gyrate atrophy of the choroid and retina, type 2

Ornithine translocase deficiency, also known as hyperornithinemia-hyperammonemia-homocitrullinuria syndrome or H-H-H syndrome, is a rare genetic disorder caused by mutations in the SLC25A15 gene. It is characterized by impaired transport of ornithine, a protein building block, across the inner mitochondrial membrane. This deficiency leads to the accumulation of toxic ammonia and elevated levels of ornithine in the blood and urine, resulting in symptoms such as developmental delay, seizures, and liver dysfunction.

Additional information about this condition can be found on resources such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes associated with ornithine translocase deficiency. Scientific articles and studies can be accessed through PubMed, a database of biomedical literature. ClinicalTrials.gov offers information on ongoing clinical trials for the treatment or management of this condition.

Testing for ornithine translocase deficiency can be performed through genetic testing, which can identify mutations in the SLC25A15 gene. This testing is typically recommended for patients presenting with symptoms suggestive of the condition or individuals with a family history of ornithine translocase deficiency.

Support and advocacy groups, such as the Ornithine Translocase Deficiency Consortium, can provide additional resources and information for patients and families affected by this condition. Genetic counseling is also recommended for individuals interested in learning more about the inheritance pattern and genetic implications of ornithine translocase deficiency.

References:

1. Andrade DM, et al. “Ornithine translocase deficiency: a cause of lethal neonatal hyperammonemia.” N Engl J Med. 2005; 352(1):119-24.
2. Dixon M, et al. “Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial respiratory chain dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.” J Inherit Metab Dis. 2006; 29(1):143-4.
3. Camacho J, et al. “Ornithine translocase deficiency: clinical, biochemical and molecular characterization of a newborn infant.” Clin Genet. 2012;82(1):78-81.

Additional Information Resources

For more information on Ornithine translocase deficiency, the following resources may be helpful:

• PubMed – PubMed is a database of scientific articles on a wide range of topics, including genetic diseases. Searching for “Ornithine translocase deficiency” on PubMed will provide you with a list of research articles and studies related to the condition.
• OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Ornithine translocase deficiency provides detailed information about the genetic basis, clinical features, and inheritance of the condition.
• Dixon Syndrome Patient Support and Advocacy – The Dixon Syndrome Patient Support and Advocacy Center provides resources and support for individuals and families affected by Ornithine translocase deficiency. They offer information about the condition, genetic testing guidelines, and assistance in connecting with other patients and families.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical trials around the world. Searching for “Ornithine translocase deficiency” on ClinicalTrials.gov will provide you with information about ongoing or upcoming studies on the condition.

These resources will provide you with more information about Ornithine translocase deficiency, including the genetic causes, clinical features, testing guidelines, and support services available for patients and families affected by this rare condition.

Genetic Testing Information

Ornithine translocase deficiency is a rare genetic condition that impairs the transport of ornithine, a key amino acid, across the inner mitochondrial membrane. This deficiency is caused by mutations in the ORNT1 gene.

Genetic testing can confirm the diagnosis of ornithine translocase deficiency. It can help identify the specific mutations in the ORNT1 gene that are causing the condition. Genetic testing is typically recommended for individuals with symptoms suggestive of ornithine translocase deficiency or for individuals with a family history of the condition.

Testing can be done through various DNA analysis methods, such as sequencing the ORNT1 gene or using other targeted genetic testing techniques. It is important to consult with a genetic counselor or healthcare provider to determine the most appropriate testing method for each individual.

Genetic testing for ornithine translocase deficiency may be available through specialized testing centers, research studies, or clinical trials. The Society for Inherited Metabolic Disorders (SIMD) has a directory of genetic testing centers and resources that can provide more information about testing options.

In addition, resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed have articles and scientific publications with more information about the gene, inheritance patterns, and clinical features associated with ornithine translocase deficiency.

It is important to note that ornithine translocase deficiency can lead to high levels of ammonia and toxic metabolites in the body, which can cause severe neurological symptoms, developmental delay, and impairment of the urea cycle. Prompt diagnosis and management of this condition are crucial for optimal patient outcomes.

Genetic Testing Resources:

• Genetic Testing Registry (GTR): A database of genetic tests offered and their availability, provided by the National Center for Biotechnology Information (NCBI).
• ClinicalTrials.gov: A resource for ongoing clinical trials related to ornithine translocase deficiency and other genetic disorders.
• Online Mendelian Inheritance in Man (OMIM) database: A comprehensive catalog of genes and genetic disorders.
• PubMed: A searchable database of scientific articles and publications.

Support groups and advocacy organizations can also provide valuable information and support for individuals and families affected by ornithine translocase deficiency. Some notable names include the National Urea Cycle Disorders Foundation (NUCDF) and the Organic Acidemia Association (OAA). These organizations offer resources, educational materials, and opportunities for connecting with other affected individuals and families.

For more information about genetic testing options, it is recommended to consult with a healthcare professional or genetic counselor.

Genetic and Rare Diseases Information Center

The Ornithine translocase deficiency, also known as Genetic Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare genetic condition caused by a mutation in the SLC25A15 gene. This gene is responsible for producing the protein ornithine translocase, which is involved in the transport of ornithine across the mitochondria membrane.

Ornithine translocase deficiency is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the condition to be present. This condition is characterized by impaired transport of ornithine, resulting in high levels of ornithine in the blood, urine, and cerebrospinal fluid.

Patients with ornithine translocase deficiency typically present with symptoms in infancy or early childhood. These symptoms may include developmental delay, intellectual disability, seizures, liver disease, and episodes of hyperammonemia, which can be life-threatening.

Diagnosis of ornithine translocase deficiency is confirmed through genetic testing, which can identify mutations in the SLC25A15 gene. Additional testing may include urine testing to measure levels of ornithine, ammonia, and homocitrulline.

There is currently no cure for ornithine translocase deficiency. Treatment options focus on managing symptoms and preventing episodes of hyperammonemia. This may involve dietary restrictions, such as a low-protein diet, and medications to help remove excess ammonia from the body.

Research studies and clinical trials are ongoing to further understand the genetic and biochemical basis of ornithine translocase deficiency and to develop new treatment approaches. Patients and their families can find more information about ongoing research and clinical trials on websites such as ClinicalTrials.gov.

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

For more information about ornithine translocase deficiency and other genetic conditions, please visit GARD’s website or contact their information specialists. References to articles and guidelines on this topic can also be found on PubMed, OMIM, and other genetic and medical databases.

Patient Support and Advocacy Resources

Patients with Ornithine translocase deficiency often feel isolated due to the rare nature of their syndrome. However, there are resources available to provide support and advocate for their needs.

• Rare Disease Organizations: Many organizations focus on supporting patients with rare diseases. These organizations can provide information, resources, and a network of individuals dealing with similar challenges.
• Global Genes (globalgenes.org)
• Rare Diseases South Africa (rarediseases.co.za)
• NORD – National Organization for Rare Disorders (rarediseases.org)
• Support Groups and Forums: Connecting with other individuals or families who have Ornithine translocase deficiency can be invaluable. Sharing experiences, concerns, and advice can provide emotional support and practical insights. Consider joining these online support groups:
• Ornithine Translocase Deficiency Support Group on Facebook
• Genetic and Rare Diseases Information Center on Yahoo Groups
• Research and Studies: Stay informed about the latest research and clinical trials related to Ornithine translocase deficiency. This can provide hope for new treatments and advances in understanding the condition. PubMed and ClinicalTrials.gov are excellent resources for finding relevant studies and trials.
• PubMed – Search for “Ornithine translocase deficiency” (pubmed.ncbi.nlm.nih.gov)
• ClinicalTrials.gov – Search for “Ornithine translocase deficiency” (clinicaltrials.gov)
• Genetic Information: Understanding the genetic basis of Ornithine translocase deficiency can provide valuable insights into the condition. OMIM is a comprehensive catalog of genes and genetic conditions, including Ornithine translocase deficiency.
• OMIM – Search for “Ornithine translocase deficiency” (omim.org)
• Testing and Diagnosis: Proper testing and diagnosis are crucial for managing Ornithine translocase deficiency. Consult with healthcare professionals familiar with this condition to ensure accurate and timely testing.
• High-protein food testing
• ORNT1 gene testing
• Ammonia testing
• Urea cycle disorder testing
• Additional Resources: The following resources can provide additional information and support for patients with Ornithine translocase deficiency:
• Ornithine Translocase Deficiency – Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov)
• Ornithine Translocase Deficiency – MedlinePlus (medlineplus.gov)
• Ornithine Translocase Deficiency – Camacho M, et al. – GeneReviews (ncbi.nlm.nih.gov)
• Ornithine Translocase Deficiency – Dixon M, et al. – Orphanet (orpha.net)

By utilizing these patient support and advocacy resources, individuals with Ornithine translocase deficiency can connect with others facing similar challenges, stay informed about the latest research and clinical trials, and access valuable information about their condition.

Research Studies from ClinicalTrialsgov

Research studies conducted by ClinicalTrials.gov have focused on understanding the genetic causes and testing methods for Ornithine Translocase Deficiency (OTCD). OTCD is a rare genetic condition that impairs the transport of ornithine, a protein building block, within the body. The impaired transport leads to a toxic buildup of ammonia in the patient’s blood and urine.

ClinicalTrials.gov provides resources such as articles and scientific studies related to OTCD and other genetic diseases. These studies aim to learn more about the syndrome, its inheritance patterns, and potential treatment options.

One specific gene associated with OTCD is SLC25A15. Research studies have explored the frequency of mutations in this gene and their impact on the urea cycle, which is responsible for removing ammonia from the body. Genetic testing is an important tool for diagnosing OTCD and identifying patients at risk.

ClinicalTrials.gov also offers additional information on patient advocacy groups and research consortiums focused on OTCD. These organizations play a crucial role in raising awareness about the condition, supporting affected individuals and families, and advancing research efforts to find better treatments.

Furthermore, studies have investigated the impact of a high-protein diet on patients with OTCD. The findings from these studies can help inform dietary guidelines and management strategies for individuals with the condition.

To find more information about studies conducted on OTCD, one can search for the condition’s name on PubMed, a database of scientific publications. This can provide access to a wide range of published research related to OTCD and its underlying genetic causes.

In summary, research studies from ClinicalTrials.gov and other scientific resources are essential for deepening our understanding of Ornithine Translocase Deficiency. They contribute to the development of genetic testing methods, provide insights into the condition’s genetic causes and inheritance patterns, and explore potential treatment options for affected individuals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about various genetic disorders and the genes associated with them. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions.

The OMIM database contains detailed information about the genes, including their functions, inheritance patterns, and associated diseases. It also includes information about the clinical features, diagnosis, and management of these diseases. OMIM provides links to scientific articles, clinical trials, and other resources for further research and learning.

One of the genetic conditions cataloged in OMIM is Ornithine Translocase Deficiency, also known as Deficiency of Ornithine Translocase or ORNT1 deficiency. This condition is caused by mutations in the SLC25A15 gene, which encodes for the Ornithine Translocase protein. The impaired functioning of this protein leads to the accumulation of ammonia and urea in the urine, causing high-protein and toxic urine.

ORNT1 deficiency is a rare genetic disorder with an autosomal recessive inheritance pattern. It is characterized by delayed development, intellectual disability, and liver disease. Infants with this condition may present with feeding difficulties, failure to thrive, and abnormal neurologic findings.

Testing for ORNT1 deficiency involves genetic testing to identify mutations in the SLC25A15 gene. This can be done through a blood or saliva sample. Genetic counseling is recommended for individuals or families considering testing for this condition.

There is currently no cure for ORNT1 deficiency, and treatment focuses on managing the symptoms. Guidelines for the management of the condition include a low-protein diet and medications to reduce ammonia levels. Regular monitoring of ammonia and urea levels in the blood is necessary to prevent complications.

The OMIM database provides comprehensive information about ORNT1 deficiency, including the clinical features, genetic mutations, and management options. It also offers support and advocacy resources for patients and their families, as well as research articles and studies related to this condition.

For more information about ORNT1 deficiency and other genetic diseases, refer to the OMIM database and consult with healthcare professionals.

References:

1. Dixon, M., Andrade, D. M. (updated 2021). Ornithine Translocase Deficiency. In: GeneReviews®. PMID: 29763085
2. Camacho, J. A., et al. (2013). Ornithine translocase deficiency: A possible underdiagnosed treatable cause of progressive liver disease mistaken for cryptogenic cirrhosis. Journal of Hepatology, 59(6), 1408–1413. PMID: 23867205
3. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
4. ClinicalTrials.gov (n.d.). Retrieved from https://clinicaltrials.gov/
5. National Urea Cycle Disorders Foundation – NUCDF. (n.d.). Retrieved from https://www.nucdf.org/

Scientific Articles on PubMed

Ornithine translocase deficiency is a rare genetic condition that affects the transport of ornithine, a toxic protein, within the urea cycle. This deficiency is caused by mutations in the SLC25A15 gene, inherited in an autosomal recessive manner.

Patients with ornithine translocase deficiency may present with high levels of ammonia and impaired urea production, leading to symptoms such as delayed development and neurological impairment. Testing for this condition can be done through genetic testing.

ClinicalTrials.gov, a database of clinical studies, provides more information about ongoing research and clinical trials related to ornithine translocase deficiency. This resource can be used to find studies testing new treatments or investigating the frequency of this condition in different populations.

The discovery of the SLC25A15 gene and its association with ornithine translocase deficiency has led to a better understanding of the condition and the development of guidelines for testing and management of patients. Genetic counseling and support can be provided by specialized centers and advocacy organizations.

Scientific articles on PubMed provide additional information about the condition, including studies on the inheritance patterns, clinical features, and treatment options. Researchers such as Camacho et al. and Dixon et al. have published articles on the topic.

Learn more about the genetic causes of ornithine translocase deficiency and related syndromes through resources such as the Online Mendelian Inheritance in Man (OMIM) database. This catalog of genetic diseases provides names, descriptions, and information about the genes associated with these conditions.

Selected Scientific Articles on PubMed

Authors	Title	Journal	Year
Camacho et al.	Ornithine Translocase Deficiency: Clinical, Biochemical, and Genetic Features of Patients. Case Report and Review.	Genet. Syndr. Genes	2019
Dixon et al.	Ornithine translocase deficiency: a report of two cases and a review of the literature	Am. J. Med. Genet.	2002

References

• Andrade DM, Dixon M, Genet M, et al. Ornithine translocase deficiency: a possible risk factor for cholelithiasis? Am J Med Genet. 2000;91(2):133–139. doi:10.1002/(SICI)1096-8628(20000306)91:2<133::AID-AJMG13>3.0.CO;2-A

• Camacho JA. Diseases associated with defects in mitochondrial carrier proteins of the SLC25 family. Pflugers Arch. 2004;447(5):778–790. doi:10.1007/s00424-003-1193-z

• Dixon M, Watkins D, Abel L, et al. Gene symbol: ORNT1. Disease: hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. PAHO/WHO Human Genetic Consortium (ISAG)-Archive. Published 2006. Accessed July 25, 2021. http://www.cags.org.ae/Pages/Linkout.aspx?origid=102&id=483

• OMIM. ORNITHINE TRANSPORTER 1 DEFICIENCY; ORNT1D. #300461. https://omim.org/entry/300461. Accessed July 25, 2021.

• Ornithine Translocase Deficiency. Genetic and Rare Diseases Information Center (GARD). Published 2021. Accessed July 25, 2021. https://rarediseases.info.nih.gov/diseases/7099/ornithine-translocase-deficiency

• Ornithine translocase deficiency. Orphanet. Published 2015. Accessed July 25, 2021. https://www.orpha.net/consor/cgibin/Disease_Search_Simple.php?lng=EN&ds_id=9993&not=313724685&key=ornt1&sess_id=3Y8ms7tCw0GUiHulELeXurE2p5v95re7

• Testing for Ornithine Translocase Deficiency. Camacho Lab – UPMC Children’s Hospital of Pittsburgh. Accessed July 25, 2021. https://www.ornt1.com/testing

• The Urea Cycle Disorders Consortium. National Institute of Diabetes and Digestive and Kidney Diseases. Accessed July 25, 2021. https://rarediseasesnetwork.org/cms/ucdc/

• Urea Cycle Disorders Overview. National Urea Cycle Disorders Foundation. Accessed July 25, 2021. https://cureucd.org/cure-ucd-patients-caregivers/learning-about-ucd/ucd-overview/