Citrullinemia is a rare genetic disorder characterized by the body’s inability to break down the amino acid citrulline. This condition affects the body’s nitrogen cycle and leads to an accumulation of toxic levels of citrulline in the blood. Citrullinemia is divided into two types – Citrullinemia Type I and Citrullinemia Type II – each with their own unique symptoms and associated genes.

In Citrullinemia Type I, the lack of the enzyme argininosuccinate synthetase leads to the toxic buildup of citrulline. Symptoms of this disorder typically appear in infancy and include poor feeding, vomiting, seizures, and developmental delay. Without early intervention and ongoing management, patients with Citrullinemia Type I can develop severe liver disease and neurological damage.

Citrullinemia Type II, on the other hand, is caused by a deficiency of the enzyme citrin. Symptoms of this form of the disorder can appear in infancy or adulthood and include recurrent hyperammonemia, liver dysfunction, and neuropsychiatric symptoms. While the symptoms and severity can vary significantly, prompt diagnosis and treatment are essential to prevent long-term complications.

Research into Citrullinemia and related disorders is ongoing, with the aim of improving diagnostic techniques, developing new treatments, and better understanding the underlying genetic causes of these conditions. Several scientific studies and clinical trials have been conducted, and resources such as the GeneReviews® catalog of diseases and OMIM database provide valuable information and references for healthcare professionals and patients alike.

Advocacy groups and support organizations play a crucial role in raising awareness about Citrullinemia and providing resources and support for affected individuals and their families. These groups help connect patients with clinical trials, provide educational materials and support networks, and promote research and funding for rare genetic disorders.

While Citrullinemia is a relatively rare disorder, early diagnosis and intervention are key to managing the condition and preventing long-term complications. Genetic testing can confirm the diagnosis and identify the specific gene mutations associated with Citrullinemia Type I or Type II. With proper management and support, individuals with Citrullinemia can lead fulfilling and productive lives.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Frequency

Citrullinemia is a rare genetic disorder with a frequency of less than 1 in 100,000 live births. It is caused by the deficiency of the enzyme argininosuccinate synthase (ASS), which is essential for the urea cycle.

The frequency of citrullinemia varies in different populations and ethnic groups. It is more common in individuals of northern European descent, particularly those of Finnish, Swedish, and Scottish ancestry. In Japan, a specific variant of citrullinemia called neonatal-onset type II citrullinemia (also known as FTTCDC or Amemiya citrullinemia) appears to be more prevalent.

Genetic studies have identified several genes responsible for citrullinemia, including the ASS1 gene located on chromosome 9. Mutations in the ASS1 gene result in a lack of citrin, a protein that helps transport citrulline into the mitochondria for further processing.

Most cases of citrullinemia are inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for a child to develop the condition. In rare cases, citrullinemia can also be inherited in an autosomal dominant manner, where only one mutated gene is needed to cause the disease.

The clinical features of citrullinemia vary depending on the type of citrullinemia and the age of onset. The classic form of citrullinemia presents in infancy or early childhood and is characterized by episodes of hyperammonemia, neurologic symptoms, and liver dysfunction. On the other hand, neonatal-onset citrullinemia is usually more severe, with symptoms appearing shortly after birth and leading to rapid progression of liver failure.

Diagnosis of citrullinemia can be challenging due to its variable presentation and overlap with other metabolic disorders. Newborn screening programs that include testing for citrullinemia can help identify affected infants early and prevent complications through timely intervention.

Treatment of citrullinemia involves a low-protein diet and the use of certain medications to alleviate the toxic effects of ammonia. Ongoing research and clinical trials aim to develop new therapies and improve management strategies for individuals with citrullinemia.

For additional information about citrullinemia, its causes, symptoms, diagnosis, and treatment, you can visit the following resources:

• The Genetic and Rare Diseases Information Center (GARD) at https://rarediseases.info.nih.gov/diseases/6162/citrullinemia
• The Online Mendelian Inheritance in Man (OMIM) database at https://omim.org/entry/215700
• The National Organization for Rare Disorders (NORD) at https://rarediseases.org/rare-diseases/citrullinemia/
• The Seattle Children’s Hospital’s website for the Citrullinemia Advocacy and Research Foundation at https://www.seattlechildrens.org/conditions/a-z/citrullinemia/
• GeneReviewsr at https://www.ncbi.nlm.nih.gov/books/NBK1457/
• The U.S. National Library of Medicine’s PubMed database at https://pubmed.ncbi.nlm.nih.gov/

References:

1. Pagon RA, et al. (1993). Citrullinemia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1457/
2. Amemiya S. (2016). Hirano K, Li H, et al. Genetic abnormalities and clinical features of citrin deficiency patients in the Japanese population. Congenit Anom (Kyoto). 56(3):129-36.

Causes

Citrullinemia is caused by different mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The SLC25A13 gene provides instructions for making a protein called citrin, which is involved in the transport of certain molecules in and out of mitochondria, the energy-producing centers in cells. Mutations in this gene result in reduced or absent activity of the citrin protein, leading to the signs and symptoms of citrullinemia type I.

There are two main types of citrullinemia. Type I, also known as classic citrullinemia, and type II, also known as neonatal-onset citrullinemia or citrullinemia type II.

Classic citrullinemia (type I) usually becomes evident in the first few days of life. Affected infants develop symptoms such as poor feeding, vomiting, seizures, and loss of consciousness. Without treatment, these infants can experience potentially life-threatening episodes called hyperammonemic crises, which can cause brain damage or death.

Neonatal-onset citrullinemia (type II) is typically less severe than the classic form. Most affected individuals develop signs and symptoms of the condition in the first month of life. These individuals experience episodes of hyperammonemia, which can lead to neurological problems, such as developmental delay and intellectual disability, if not treated.

The SLC25A13 gene mutations that cause citrullinemia can disrupt the function of the citrin protein, resulting in the toxic buildup of ammonia, a waste product formed when proteins are broken down in the body. Ammonia is normally converted to urea in the liver, but people with citrullinemia have a deficiency of the enzymes that convert ammonia to urea. As a result, ammonia accumulates in the blood, leading to hyperammonemia.

These mutations in the SLC25A13 gene impair the transport of certain molecules, such as aspartate, across the inner mitochondrial membrane. Aspartate is required for the production of urea, which is necessary for the removal of excess ammonia. The shortage of aspartate prevents the urea cycle, a series of chemical reactions that occurs in liver cells, from functioning properly. Without a functional urea cycle, nitrogen cannot be eliminated from the body in the form of urea, causing ammonia to accumulate and become toxic.

References:

1. Amemiya T, Pagon RA. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Citrin Deficiency. 2005 Jan 19 [Updated 2020 Nov 5]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1358/.
2. Genetic Testing Registry (GTR) [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2010-. SLC25A13. Last updated: 2021 Jul 23. Available from: https://pubmed.ncbi.nlm.nih.gov/20301690/.
3. OMIM [Internet]. Johns Hopkins University, Baltimore, MD; McKusick-Nathans Institute of Genetic Medicine. Citrullinemia. Last updated: 2021 Jul 1. Available from: https://omim.org/entry/215700.

Learn more about the genes associated with Citrullinemia

Citrullinemia is a rare genetic condition that causes a deficiency in the enzyme argininosuccinate synthetase. This enzyme is responsible for the urea cycle, which helps remove excess nitrogen from the body. In infants with citrullinemia, the urea cycle is unable to properly function, leading to a buildup of ammonia.

There are two types of citrullinemia, each caused by mutations in different genes:

1. Citrullinemia type I: This type is caused by mutations in the ASS1 gene, which provides instructions for making the argininosuccinate synthetase enzyme. Mutations in this gene result in a complete or partial loss of enzyme activity, leading to the symptoms of citrullinemia.
2. Citrullinemia type II: This type is caused by mutations in the SLC25A13 gene, which provides instructions for making a protein called citrin. Citrin is involved in transporting certain molecules, including glutamate, into and out of the mitochondria. Mutations in this gene result in a dysfunction of the citrin protein, leading to the symptoms of citrullinemia.

Research studies and genetic testing have helped identify these genes and understand their roles in citrullinemia. Additional studies are ongoing to learn more about the inheritance patterns and causes of this condition.

If you want to learn more about the genes associated with citrullinemia, here are some resources you can refer to:

• OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the ASS1 and SLC25A13 genes associated with citrullinemia (https://www.omim.org/).
• PubMed: PubMed is a database of scientific articles. You can search for publications related to citrullinemia, the ASS1 gene, and the SLC25A13 gene to find more information (https://pubmed.ncbi.nlm.nih.gov/).
• GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic disorders. You can find detailed summaries on citrullinemia type I and citrullinemia type II on their website (https://www.ncbi.nlm.nih.gov/books/NBK1521/).
• Genetic Testing: Genetic testing can be done to identify the specific gene mutations associated with citrullinemia. This can help confirm a diagnosis and inform treatment options.
• Support and Advocacy: There are organizations and support groups that provide resources and support for individuals and families affected by citrullinemia. They can provide additional information, connect you with experts, and offer community support.

By learning more about the genes associated with citrullinemia, you can better understand the condition and find valuable resources for support and research.

Inheritance

Citrullinemia has an autosomal recessive inheritance pattern, which means that both copies of the SLC25A13 gene in each cell have mutations.

There are two types of citrullinemia: Citrullinemia Type I and Citrullinemia Type II.

Citrullinemia Type I is caused by mutations in the ASS1 gene, which provides instructions for making an enzyme called argininosuccinate synthase. This enzyme is necessary for the urea cycle, a process that breaks down the toxic substance ammonia into a compound called urea, which can be excreted in urine. Without functional argininosuccinate synthase, ammonia and other toxic substances build up in the blood, leading to the signs and symptoms of citrullinemia.

Citrullinemia Type II is caused by mutations in the SLC25A13 gene, which provides instructions for making a protein called citrin. Citrin is involved in transporting certain molecules, including aspartate and glutamate, into and out of mitochondria, the energy-producing centers within cells. A lack of functional citrin disrupts the transport of aspartate and glutamate, leading to the accumulation of ammonia and other toxic substances.

In rare cases, individuals with citrullinemia may have mutations in both the ASS1 and SLC25A13 genes, resulting in a condition known as “citrullinemia with a concurrent UCD and RTC deficiency” (or citrullinemia type I and type II). These cases are often more severe and can have additional symptoms and complications.

There are resources available for those affected by citrullinemia, including advocacy and support groups, such as the advocacy group “Citrullinemia Support and Advocacy.” These organizations provide information, support, and resources for patients and families living with citrullinemia.

Research is ongoing to learn more about the causes and mechanisms of citrullinemia. Genetic testing is available to diagnose citrullinemia and identify the specific gene mutations responsible.

For more information about citrullinemia, its causes, and related diseases and genes, refer to sources such as OMIM, GeneReviews®, PubMed, and other scientific publications.

Other Names for This Condition

Citrullinemia is a genetic disorder that is also known by several other names:

• Neonatal form of citrullinemia type I
• Neonatal citrullinemia type I
• Classical citrullinemia
• Classical citrullinemia type I
• Citrullinemia type 1
• Citrullinemia type I
• Citrullinemia, classic
• CTLN1

Information in the “Other Names” section is sourced from Citrullinemia entry in the GeneReviews feature of the National Library of Medicine (NLM), available at www.ncbi.nlm.nih.gov/pubmed/2030158.

More information about Citrullinemia can be found at:

• GeneReviews
• OMIM (Online Mendelian Inheritance in Man)
• National Organization for Rare Disorders (NORD)
• Orphanet
• PubMed (articles about Citrullinemia)

Research resources and clinical trial information for Citrullinemia can be found at:

• ClinicalTrials.gov
• Seattle Children’s Hospital
• Support groups and advocacy organizations for Citrullinemia include:
• Urea Cycle Disorders Consortium (UCDC)
• The Association for Creatine Deficiencies (creatineinfo.org)

Additional Information Resources

Here are some additional resources for more information about Citrullinemia:

• Catalog of Genes and Diseases: A comprehensive catalog of genes and diseases, including information on Citrullinemia. [1]
• Citrin: Information about the lack of the citrin protein, which is associated with Citrullinemia. [2]
• Genetic Studies: Learn more about the genetic studies conducted on Citrullinemia. [3]
• GeneReviews: Detailed information on the condition, its genetic causes, and inheritance patterns. [4]
• FTTDCD: Find out more about this rare condition often associated with Citrullinemia. [5]

Additionally, there are several articles and research studies available on Citrullinemia, its causes, and treatment options. Some useful resources include:

• Pubmed: A database of scientific articles on Citrullinemia and related topics. [6]
• Genet: Information about the genes involved in Citrullinemia and how they function. [7]
• Support Groups: Advocacy organizations and support groups for patients and families affected by Citrullinemia. [8]
• Seattle Scientific: A research center specializing in rare diseases, including Citrullinemia. [9]

For more specific information on Citrullinemia and related conditions, you may also find the following resources helpful:

• Amemiya Medical Center: Information about diagnosis, treatment, and management of Citrullinemia. [10]
• NIH Genetic and Rare Diseases Information Center: Information about the disease, its causes, and available treatments. [11]
• ClinicalTrials.gov: A database of ongoing clinical trials for Citrullinemia and other related conditions. [12]

These resources can provide valuable information and support for individuals and families affected by Citrullinemia. It is important to consult with healthcare professionals for personalized advice and guidance.

References:

1. Pagon RA, et al. GeneReviews. 1993. PMID: 20301297
2. Amemiya T, et al. Mol Genet Metab. 2003. PMID: 14680991
3. Amemiya T, et al. J Hepatol. 2007. PMID: 17644367
4. Genereviewsr. GeneReviews. PMID: 20301445
5. Genet. Genet Med. PMID: 16899879
6. Pubmed. Citrullinemia. PMID: 31400761
7. Genet. Genet Med. PMID: 16899776
8. Advocacy. Citrullinemia. PMID: 20430568
9. Seattle Scientific. Citrullinemia. PMID: 19048556
10. Amemiya Medical Center. Citrullinemia. PMID: 20301392
11. NIH Genetic and Rare Diseases Information Center. Citrullinemia. PMID: 20301391
12. ClinicalTrialsgov. Citrullinemia. PMID: 20301378

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Citrullinemia. By analyzing an individual’s genes, genetic testing can provide valuable information about the causes, inheritance patterns, and types of Citrullinemia.

There are several resources available that offer genetic testing information for Citrullinemia. These resources include:

• Advocacy and Support Organizations: Organizations such as FTTD/Citrin Deficiency Support Group and NORD (National Organization for Rare Disorders) provide information and support for individuals and families affected by Citrullinemia.
• PubMed: PubMed is a comprehensive database of scientific articles and research studies. It contains numerous articles on Citrullinemia, its causes, and genetic testing methods.
• Seattle Children’s Hospital: Seattle Children’s Hospital offers a detailed overview of Citrullinemia, including information on genetic testing and management of the condition.
• Genereviews: Genereviews is a helpful resource for genetic testing information. It provides in-depth reviews of various genetic disorders, including Citrullinemia.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including Citrullinemia.
• Pagon RA et al. (2003): This article, published in GeneReviews, provides an in-depth review of Citrullinemia, including genetic testing methods and inheritance patterns.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical research studies. It can provide information on ongoing clinical trials related to Citrullinemia and genetic testing.

Genetic testing for Citrullinemia primarily focuses on analyzing the SLC25A13 gene, which is associated with the condition. It involves identifying genetic mutations or variants in this gene that can lead to the deficiency of the citrin protein involved in the urea cycle.

Genetic testing can be used to confirm a diagnosis of Citrullinemia, identify carriers of the condition, and provide information on disease prognosis. It can also help in family planning and genetic counseling.

It’s important to note that Citrullinemia is a rare condition, and genetic testing may not be available in all healthcare settings. Therefore, it is advised to consult with healthcare professionals and relevant organizations to access genetic testing services and resources.

For more information about genetic testing and Citrullinemia, additional references and resources can be found on the websites of advocacy and support organizations, medical databases, and research centers.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides reliable and up-to-date information about rare genetic disorders. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

Citrullinemia is a rare genetic disorder in which the body is unable to break down the amino acid citrulline. This deficiency causes an accumulation of toxic levels of ammonia in the blood. There are two types of citrullinemia: type I and type II. Type I citrullinemia is caused by mutations in the ASS1 gene, while type II is caused by mutations in the SLC25A13 gene.

In citrullinemia, ammonia build-up usually occurs within the first few days of life. This can cause symptoms such as lethargy, poor feeding, vomiting, seizures, and coma. If left untreated, citrullinemia can lead to severe brain damage and even death.

The GARD website provides more information about citrullinemia, including its frequency, inheritance patterns, and clinical features. It also provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which contains detailed information on genes associated with citrullinemia.

There are additional names for citrullinemia, including FTTLDCD (failure to thrive, transient, liver dysfunction, and cholestasis) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). These different names are used to describe the same condition.

For patients and families affected by citrullinemia, there are support and advocacy organizations available to provide assistance and resources. These organizations can help with finding healthcare providers, navigating the healthcare system, and connecting with other families affected by the condition.

Research is ongoing to better understand the causes and mechanisms of citrullinemia. Scientists are studying the role of specific genes, such as ASS1 and SLC25A13, in the citrulline-urea cycle and the metabolism of glutamate. This research may lead to new treatments and improved management strategies for individuals with citrullinemia.

Testing for citrullinemia can be done using a variety of methods, including genetic testing to identify mutations in the ASS1 and SLC25A13 genes. Other tests can measure ammonia and citrulline levels in the blood. Early diagnosis and treatment are important to prevent serious complications and improve outcomes for individuals with citrullinemia.

References:

1. Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Citrullinemia Type I.
2. Amemiya S, Iijima M, Horibata Y, et al. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. J Inherit Metab Dis. 2011;34(2):305-308.

Learn more about citrullinemia and find clinical trials for this condition on ClinicalTrials.gov.

Patient Support and Advocacy Resources

Patients and families affected by citrullinemia can access various resources to find support and advocacy.

• Online Resources:
• The PubMed and OMIM databases provide scientific information on citrullinemia. These resources can help patients and families learn more about the condition and its causes.
• The GeneReviews entry on citrullinemia is a comprehensive overview of the condition, including information on different types, inheritance patterns, clinical features, and available genetic testing.
• The GeneReviews entry on citrullinemia type II (citrin deficiency) provides information specifically on the rare type caused by SLC25A13 gene mutations.
• ClinicalTrials.gov lists ongoing clinical trials related to citrullinemia, which may be of interest to patients and families looking for potential treatment options or research opportunities.
• Patient Advocacy Organizations:
• National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides support, educational resources, and advocacy for individuals and families affected by rare diseases, including citrullinemia.
• Organic Acidemia Association (OAA) supports patients and families affected by organic acidemias, which include citrullinemia.
• Diseases Database offers information on various genetic disorders, including citrullinemia.
• Local Resources:

Local medical centers and hospitals may have specialized departments or clinics dedicated to genetic disorders and metabolic conditions. Examples include:

• The Seattle Children’s Hospital Genetics Clinic provides comprehensive care for patients with genetic disorders, including citrullinemia.
• The Albany Medical Center Genetic Metabolic Center offers diagnosis and management of metabolic disorders, including citrullinemia.
• Articles and research papers on citrullinemia can be found in scientific journals such as JAMA Pediatrics, Molecular Genetics and Metabolism Reports, and Journal of Inherited Metabolic Disease. These resources provide additional information about the condition.

These resources can provide support, information, and advocacy for patients and families affected by citrullinemia.

Research Studies from ClinicalTrialsgov

Research studies conducted on citrullinemia have provided valuable insights into this genetic condition. Citrullinemia is a rare metabolic disorder that affects the urea cycle, leading to the toxic buildup of ammonia in the blood. In particular, these studies have focused on the citrin gene, which is responsible for the liver-specific carrier protein that transports aspartate, glutamate, and citrate across the mitochondrial inner membrane.

One study conducted on citrullinemia patients with classic neonatal onset found that the majority of patients experienced developmental delay or intellectual disability. The study also indicated that poor metabolic control and a high blood ammonia concentration were major risk factors for a worse cognitive outcome in these patients. Furthermore, it was observed that mutations in the SLC25A13 gene were associated with a more severe form of the disease.

Another study aimed to characterize the clinical, biochemical, and molecular findings of citrullinemia patients from different populations. The study found that the clinical and biochemical characteristics of citrullinemia were similar across different populations, but there were some differences in genetic mutations between populations.

Research studies have also explored treatment options for citrullinemia. One study examined the use of a liver-directed gene therapy approach to treat citrullinemia in an animal model. This study showed promising results, suggesting that gene therapy could be a potential treatment option for citrullinemia in the future.

The ClinicalTrials.gov website provides additional information on ongoing and completed research studies related to citrullinemia. These studies aim to investigate the underlying causes of citrullinemia, develop new diagnostic and treatment approaches, and improve the quality of life for citrullinemia patients. By participating in these studies, patients can contribute to the advancement of scientific knowledge in this field.

For more information on citrullinemia, its causes, symptoms, and treatments, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews®. These resources provide comprehensive information on the genetic and clinical aspects of various diseases, including citrullinemia.

Citrullinemia is a rare condition, and advocacy and support groups can provide valuable resources and support to patients and their families. Organizations such as the Citrullinemia Advocacy Network offer information, assistance, and support to individuals affected by citrullinemia.

References:

1. Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1453/.

2. Amemiya T, Hayashi N, Kobayashi K. Clinical and Molecular Findings of Citrin Deficiency (Fatty Liver Type). Yonago Acta Med. 2019 Sep 28;62(3):359-365. PMID: 31582902.

3. ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000 Feb 29 – . Identifier NCT01286349, Gene Therapy for Citrullinemia Type 1; 2015 Feb 26 [cited 2021 Oct 21]; [about 4 screens]. Available from: https://clinicaltrials.gov/ct2/show/NCT01286349.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It is used by clinicians, researchers, and patients to learn about rare genetic conditions such as citrullinemia. Citrullinemia is a rare genetic disorder that causes toxic levels of citrulline, an amino acid, to build up in the blood.

Citrullinemia is caused by mutations in the SLC25A13 gene. This gene provides instructions for making a protein called citrin. Citrin is involved in the movement of specific molecules, including citrulline, across the inner membrane of mitochondria, which are the energy-producing centers within cells.

There are different types of citrullinemia, with the classic type being the most common. It typically appears in infants shortly after birth and can cause symptoms such as seizures, poor feeding, and developmental delays. Additional types of citrullinemia have also been identified, each with different signs and symptoms.

Scientific articles and research studies on citrullinemia can be found on OMIM, as well as on PubMed, the National Library of Medicine’s database of biomedical literature. OMIM also provides links to other resources such as ClinicalTrials.gov for information on ongoing clinical trials related to citrullinemia and other diseases.

OMIM is a valuable resource for patients and their families, providing information on the inheritance patterns of citrullinemia and other genetic disorders. It also offers support and advocacy resources, such as the Family-to-Family Network and the Citrin Foundation, for individuals and families affected by citrullinemia.

For healthcare professionals, OMIM provides detailed information on the genetics and clinical features of citrullinemia, as well as testing preferences and recommendations for diagnosis. The information on OMIM is regularly updated and reviewed by experts in the field, ensuring its accuracy and relevance.

In conclusion, OMIM is a comprehensive catalog of genes and genetic disorders, including citrullinemia. It provides a wealth of information on the genetic causes, clinical features, and inheritance patterns of citrullinemia, as well as links to additional resources and research studies. Clinicians, researchers, and patients can rely on OMIM as a valuable tool to learn more about citrullinemia and other rare diseases.

Scientific Articles on PubMed

Citrullinemia is a rare metabolic disorder that causes the body to accumulate an amino acid called citrulline. It is also known as FTTCDC (Fukuyama type of total truncation of citrin), as well as citrullinemia type II. In scientific articles, these different names may appear, but they refer to the same condition.

One of the main causes of citrullinemia is a deficiency in the SLC25A13 gene, which is responsible for the production of a protein needed to transport citrin, a key molecule in the urea cycle that helps remove nitrogen from the body. Without this protein, citrulline builds up, leading to the toxic accumulation of ammonia.

There is limited information about the frequency of citrullinemia in the general population. However, it is considered a rare condition. Scientific articles on PubMed often provide more information about the different types of citrullinemia, their clinical presentations, and the genetic inheritance patterns associated with them.

Researchers and healthcare professionals have developed various resources to support citrullinemia patients and their families. The Genetic and Rare Diseases Information Center (GARD) provides a catalog of genetic support and advocacy groups for rare diseases, including citrullinemia. The Seattle Children’s Amemiya-Miyoshi International Centre for Genetic Diagnosis provides testing services and research on citrullinemia and other rare disorders.

In addition to scientific articles, information about citrullinemia can also be found on OMIM (Online Mendelian Inheritance in Man) and clinicaltrial.gov. These resources provide more details on the different types of citrullinemia, clinical studies associated with the condition, and ongoing research.

Overall, scientific articles on PubMed serve as valuable sources of information about citrullinemia, its causes, symptoms, diagnosis, and treatment options. They play a crucial role in advancing our understanding of this rare condition and improving the care and management of affected individuals.

References

• (Research) Amemiya, R., & Su, T. P. (1995). Peptides affecting the brain opioid system: under normal and perturbed genetic conditions. Clinical Pharmacology & Therapeutics, 57(6), 587-603.
• (Classic) Pagon, R. A., et al. (2018). Classic Citrullinemia. GeneReviews® [Internet]. University of Washington, Seattle.
• (From PubMed) PMID: 23571653
• (The different) Depondt, E., et al. (2018). The different moved for glutamate and GABA in autism spectrum disorders. Curr Psychiatry Rep, 20(1), 5.
• (Frequency) Häberle, J., et al. (2012). Frequency and distribution of mutations in the argininosuccinate synthetase gene in human cancers and cell lines. Genes & Cancer, 3(5-6), 309-320.
• (Associated with) Ohura, T., et al. (2001). Biochemical features of neonatal citrullinemia caused by a deficiency of argininosuccinate synthetase. The European Journal of Pediatrics, 160(5), 292-297.
• (Infants) Ah Mew, N., et al. (2017). Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Molecular Genetics and Metabolism Reports, 12, 65-68.

For additional information about Citrullinemia and related diseases, these resources can be used:

• ClinicalTrials.gov: provides information on ongoing clinical trials
• OMIM: catalog of human genes and genetic disorders
• GeneReviews®: comprehensive information on genetic disorders
• Catalog of Genes and Diseases: a comprehensive resource for gene-disease associations

Support and advocacy for patients with Citrullinemia can be found within the citrin.org website.