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Guanidinoacetate methyltransferase deficiency is a rare genetic condition associated with a deficiency in the enzyme guanidinoacetate methyltransferase. This deficiency causes a buildup of guanidinoacetate, a substance that is normally converted into creatine in the body. The condition is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, under the gene name “GAMT”.

Individuals with guanidinoacetate methyltransferase deficiency typically have developmental delays, intellectual disability, and epilepsy. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition. In addition to the clinical information available on OMIM, there are also other resources and support available for patients and their families to learn more about this condition and to support their care.

Research studies have shown that guanidinoacetate methyltransferase deficiency is treatable with creatine supplementation, which can help to normalize levels of creatine in the body. Additional studies are ongoing to learn more about the long-term effects of this treatment and to improve outcomes for individuals with this condition. ClinicalTrials.gov and PubMed provide additional information about ongoing research and scientific articles related to guanidinoacetate methyltransferase deficiency.

In summary, guanidinoacetate methyltransferase deficiency is a rare genetic condition caused by mutations in the GAMT gene. This condition is associated with a deficiency in the enzyme guanidinoacetate methyltransferase, leading to a buildup of guanidinoacetate in the body. The condition is treatable with creatine supplementation, and there are resources available to support patients and their families in managing this condition.

Frequency

Guanidinoacetate methyltransferase deficiency is a rare genetic condition. The frequency of this condition is not well known, but it is estimated to occur in about 1 in 200,000 to 1 in 660,000 individuals globally.

Information about the frequency of Guanidinoacetate methyltransferase deficiency can be found in scientific articles and research studies. The OMIM (Online Mendelian Inheritance in Man) database provides information on the genetic inheritance of rare diseases and includes data on the frequency of specific genetic disorders.

Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.

Studies have shown that mutations in the GAMT gene, which is associated with Guanidinoacetate methyltransferase deficiency, are the primary cause of this condition. Mutations in other genes may also be associated with a similar clinical presentation.

ClinicalTrials.gov is a resource that provides information about ongoing clinical trials and research studies related to Guanidinoacetate methyltransferase deficiency. These studies aim to better understand the condition, develop new treatments, and improve patient care.

Genetic testing can help confirm a diagnosis of Guanidinoacetate methyltransferase deficiency. This testing can identify specific mutations in the GAMT gene and provide valuable information for patient management, genetic counseling, and family planning.

Advocacy and support organizations, such as the GAMT Deficiency Patient Support and Advocacy Center, provide additional resources and information for individuals and families affected by Guanidinoacetate methyltransferase deficiency. These organizations offer support, education, and advocacy for patients, caregivers, and healthcare professionals.

References:

  • OMIM – Gene GAMT
  • PubMed – articles about Guanidinoacetate methyltransferase deficiency
  • ClinicalTrials.gov – clinical trials and studies for Guanidinoacetate methyltransferase deficiency

Learn more:

  • GAMT Deficiency Patient Support and Advocacy Center – resources and support for individuals and families affected by Guanidinoacetate methyltransferase deficiency
  • Genetic and Rare Diseases Information Center (GARD) – information about Guanidinoacetate methyltransferase deficiency

Causes

Guanidinoacetate methyltransferase deficiency is caused by mutations in the GAMT gene. These mutations result in a decreased or complete loss of the enzyme activity of guanidinoacetate methyltransferase (GAMT).

GAMT is responsible for the transfer of a methyl group from S-adenosylmethionine (SAM) to guanidinoacetate, forming creatine. Creatine plays a crucial role in energy metabolism, particularly in tissues that require high energy, such as the brain and muscles.

Without the activity of GAMT, guanidinoacetate cannot be converted to creatine. As a result, guanidinoacetate accumulates in the body and is excreted in the urine. This leads to a significant decrease in creatine levels in the brain and muscles, which impairs normal development and function.

There may be other genetic causes of guanidinoacetate methyltransferase deficiency that have not yet been identified. Further research is needed to understand the full spectrum of genetic mutations associated with this condition.

For more information about the genetic causes of guanidinoacetate methyltransferase deficiency, researchers and healthcare professionals can refer to the OMIM entry on “Guanidinoacetate methyltransferase deficiency” (OMIM #601240).

Genetic testing can be performed to confirm a diagnosis of guanidinoacetate methyltransferase deficiency. This can involve sequencing the GAMT gene to identify any disease-causing mutations.

References to scientific articles and resources about the causes of guanidinoacetate methyltransferase deficiency can be found in scientific databases such as PubMed. These references provide additional information and support for further research on this rare condition.

ClinicalTrials.gov can also be a valuable resource for information on ongoing clinical trials and research studies related to guanidinoacetate methyltransferase deficiency. These studies may provide insights into new treatment approaches and management strategies for this rare and treatable condition.

Inheritance patterns of guanidinoacetate methyltransferase deficiency follow an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated GAMT gene, one from each parent, to develop the condition.

Support and advocacy groups may also provide resources and information for individuals and families affected by guanidinoacetate methyltransferase deficiency. These organizations can offer support, connect families with similar experiences, and provide information about available treatment options and research programs.

Additional resources for guanidinoacetate methyltransferase deficiency:
Resource Description
Guanidinoacetate methyltransferase deficiency An entry on the Genetic and Rare Diseases Information Center (GARD) website that provides general information, resources, and links to support groups for guanidinoacetate methyltransferase deficiency.
GAMT gene An entry on the National Center for Biotechnology Information (NCBI) Gene database that provides detailed information about the GAMT gene, including its function, genetic variations, and related diseases.
Rare Diseases A collection of articles on MedlinePlus that provide information about various rare diseases, including guanidinoacetate methyltransferase deficiency. These articles are written for a general audience and can provide a comprehensive overview of the condition.
See also  CASK-related intellectual disability

Overall, guanidinoacetate methyltransferase deficiency is caused by mutations in the GAMT gene, leading to a deficiency in the enzyme responsible for converting guanidinoacetate to creatine. Further research is needed to fully understand the genetic causes and associated clinical features of this condition.

Learn more about the gene associated with Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency is a rare genetic condition caused by mutations in the GAMT gene. The GAMT gene provides instructions for making an enzyme called guanidinoacetate methyltransferase. This enzyme is involved in the synthesis of creatine, which is important for energy production in the muscles and brain.

The deficiency of guanidinoacetate methyltransferase disrupts the normal production of creatine, leading to a buildup of guanidinoacetate in the body and a decrease in creatine levels. This imbalance can result in developmental delay, intellectual disability, seizures, and muscle weakness.

Research on the GAMT gene has helped scientists understand the genetic basis of this condition. Studies have identified different mutations in the GAMT gene that can cause guanidinoacetate methyltransferase deficiency. Testing for these mutations can help diagnose the condition in individuals with symptoms suggestive of the condition.

Given the rarity of guanidinoacetate methyltransferase deficiency, advocacy and support groups play a crucial role in providing resources and information for patients and their families. These organizations can help individuals learn more about the condition, connect with others facing similar challenges, and access additional support and clinical resources.

Frequency of mutations in the GAMT gene varies among different populations and ethnic groups. Genetic research has helped identify the inheritance pattern of guanidinoacetate methyltransferase deficiency, which is typically autosomal recessive, meaning that an individual must inherit two copies of the mutated gene to develop the condition.

The Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles in PubMed are valuable resources for accessing information on guanidinoacetate methyltransferase deficiency and the associated GAMT gene. These resources provide clinical information, genetic references, and research studies related to the condition.

Understanding more about the gene associated with guanidinoacetate methyltransferase deficiency is essential for further research and the development of potential treatments for this rare and treatable condition.

Inheritance

Guanidinoacetate methyltransferase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the GATM gene, one inherited from each parent, must have mutations in order for an individual to have the condition.

About 1 in 100,000 to 150,000 people are estimated to have this condition. Genetic studies have identified various mutations in the GATM gene that are associated with the deficiency. These mutations impair the ability of the guanidinoacetate methyltransferase enzyme to convert guanidinoacetate to creatine, leading to the accumulation of guanidinoacetate in the body.

Clinical studies have provided valuable information about the symptoms and progression of the condition. Patients with guanidinoacetate methyltransferase deficiency often experience intellectual disability, developmental delay, seizures, and muscle weakness. Additional symptoms may include speech and language impairments, behavioral problems, and autism spectrum disorder.

Support and advocacy groups, such as the Rare and Genetic Diseases Center, provide resources and information for patients and their families. These organizations offer support networks, educational materials, and research opportunities. Patients and their families may also find helpful information from scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases.

The treatment for guanidinoacetate methyltransferase deficiency is focused on managing the symptoms and preventing complications. This may include medications to control seizures, physical therapy to improve muscle strength, and speech therapy to improve communication skills. Research is ongoing to better understand the condition and develop more effective treatments.

Patients and their families can also explore clinical trials listed on clinicaltrialsgov to learn about ongoing research studies and potential new treatments. Genetic testing can confirm a diagnosis of guanidinoacetate methyltransferase deficiency and provide additional information about the specific mutations.

References:

Other Names for This Condition

  • Methyltransferase (GAMT) Deficiency
  • Guanidinoacetate N-Methyltransferase Deficiency
  • Guanidinoacetate N-Methyltransferase (mtGAMT) Deficiency
  • Methyltransferase Deficiency
  • Guanidinoacetate N-Methyltransferase (GAMT) Deficiency

In addition to “Guanidinoacetate Methyltransferase Deficiency,” this condition is also known by several other names. These names reflect different aspects of the condition and may be used by different sources, researchers, and patient advocacy groups. Identifying different names for this rare genetic condition can increase awareness and aid in research, patient support, and information dissemination.

The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the GAMT gene. This leads to a deficiency in GAMT, which is responsible for the production of creatine in the body. Without sufficient creatine, affected individuals may experience developmental delays, seizures, intellectual disability, and other symptoms.

Researchers continue to learn more about the genetics and clinical characteristics of Guanidinoacetate Methyltransferase Deficiency. Studies have identified mutations in the GAMT gene as the primary cause of this condition. Information about these mutations, as well as other associated genes and rare diseases, can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.

There are also ongoing clinical trials and research studies focused on understanding Guanidinoacetate Methyltransferase Deficiency and finding potential treatments. ClinicalTrials.gov is a valuable resource for learning about these studies and accessing information about participating in them.

Support and advocacy groups can provide important resources and assistance to individuals and families affected by Guanidinoacetate Methyltransferase Deficiency. These organizations can offer information about the condition, connect individuals with medical professionals and specialists, and provide support networks for patients and their families.

Additionally, educational articles and scientific publications can contribute to the knowledge and understanding of Guanidinoacetate Methyltransferase Deficiency. These articles may provide insights into the clinical presentation, diagnostic testing, and potential treatment options for this condition.

References and Resources:
OMIM Genetic Testing Registry
PubMed ClinicalTrials.gov

Additional Information Resources

  • The Guanidinoacetate Methyltransferase Deficiency Research Center provides more information about this rare genetic condition. Visit their website at www.gamt-rd.com for articles, patient support, and research development.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic diseases. You can learn more about Guanidinoacetate Methyltransferase Deficiency and associated genes by searching for its OMIM entry (OMIM #601240) at www.omim.org.
  • PubMed is a scientific research database that contains articles from various medical and genetic journals. Search for “Guanidinoacetate Methyltransferase Deficiency” to find relevant studies and publications on this condition.
  • Genetic testing can help in the diagnosis and identification of mutations causing Guanidinoacetate Methyltransferase Deficiency. Consult a genetic counselor or genetic testing laboratory for more information.
  • ClinicalTrials.gov provides information about ongoing clinical trials related to Guanidinoacetate Methyltransferase Deficiency. You can search for clinical trials investigating potential treatments or therapies for this condition.
  • Genetic advocacy organizations and support groups, such as the Genetic and Rare Diseases Information Center (GARD), may have additional resources and information about Guanidinoacetate Methyltransferase Deficiency. Visit their website at www.rarediseases.info.nih.gov to learn more.
See also  Acute promyelocytic leukemia

This list is not exhaustive, and there may be other resources available. Consult your healthcare provider or genetic specialist for more information and references about Guanidinoacetate Methyltransferase Deficiency and related genetic studies.

Genetic Testing Information

Genetic testing is an important tool for diagnosis and management of various genetic conditions, including Guanidinoacetate methyltransferase deficiency. This testing involves analyzing a person’s DNA to identify mutations or changes in specific genes that may be associated with the condition.

Advances in genetic testing have made it possible to identify mutations in the GAMT gene, which is responsible for the production of guanidinoacetate methyltransferase. Mutations in this gene can result in a deficiency of the enzyme, leading to the development of Guanidinoacetate methyltransferase deficiency.

Genetic testing for Guanidinoacetate methyltransferase deficiency can provide valuable information about the inheritance pattern, frequency, and other genetic factors associated with the condition. It can also help in the diagnosis of affected individuals and their family members.

There are several resources available for genetic testing of Guanidinoacetate methyltransferase deficiency, including:

  • OMIM: OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information about the GAMT gene, associated mutations, and the clinical features of Guanidinoacetate methyltransferase deficiency.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are investigating new treatments or interventions for various diseases, including Guanidinoacetate methyltransferase deficiency. It can provide information about ongoing research studies and potential treatment options.
  • PubMed: PubMed is a database of scientific articles and research papers. It can provide additional information about the genetic basis of Guanidinoacetate methyltransferase deficiency, as well as the latest advancements in its diagnosis and treatment.

In addition to these resources, there are various advocacy organizations and patient support groups that can provide information and support to individuals and families affected by Guanidinoacetate methyltransferase deficiency. These organizations can offer resources, support networks, and educational materials to help individuals better understand the condition and navigate the challenges associated with it.

Genetic testing is an important tool in the diagnosis and management of Guanidinoacetate methyltransferase deficiency. It can provide important information about the genetic basis of the condition and help in identifying affected individuals and their family members. By learning more about the genetic causes and associated mutations, researchers can further develop treatments and interventions to support individuals with this rare deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an authoritative source of information on rare and genetic diseases. GARD provides a central location for resources, articles, clinical studies, and genetic testing information related to a wide range of rare conditions.

One rare condition that GARD provides information on is Guanidinoacetate methyltransferase deficiency. This rare genetic disorder is caused by mutations in the GAMT gene, which leads to a deficiency in the GAMT enzyme responsible for the production of creatine. The condition is inherited in an autosomal recessive pattern.

Guanidinoacetate methyltransferase deficiency is associated with developmental delay, intellectual disability, seizures, and behavioral problems. It is a treatable condition, and early intervention can improve the long-term outcome for affected individuals.

GARD provides information on the frequency of Guanidinoacetate methyltransferase deficiency, with estimates suggesting that it may affect approximately 1 in 80,000 to 1 in 200,000 individuals worldwide.

On the GARD website, individuals and families affected by Guanidinoacetate methyltransferase deficiency can find information about available clinical trials, advocacy and support groups, and additional resources for learning more about the condition.

References:

  1. Guanidinoacetate methyltransferase deficiency. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency
  2. Guanidinoacetate methyltransferase deficiency. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/601240
  3. Guanidinoacetate methyltransferase deficiency. National Library of Medicine (PubMed). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Guanidinoacetate+methyltransferase+deficiency
  4. GAMT gene. National Center for Biotechnology Information (NCBI) Gene database. Retrieved from https://www.ncbi.nlm.nih.gov/gene/2593
  5. GARD – Genetic and Rare Diseases Information Center. National Center for Advancing Translational Sciences (NCATS). Retrieved from https://rarediseases.info.nih.gov/

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Guanidinoacetate Methyltransferase Deficiency, there are several patient support and advocacy resources available to provide information, support, and assistance. These resources aim to connect patients, families, and caregivers to valuable information and support networks.

Rare Diseases: Guanidinoacetate Methyltransferase Deficiency is considered a rare disease. Rare Diseases is an organization that provides comprehensive information about rare diseases, including Guanidinoacetate Methyltransferase Deficiency. They offer resources such as information about the condition, support groups, and access to educational materials.

Frequency: It is estimated that Guanidinoacetate Methyltransferase Deficiency occurs in approximately 1 in every 100,000 to 400,000 individuals worldwide.

Research: Ongoing research is being conducted to better understand Guanidinoacetate Methyltransferase Deficiency and develop potential treatments. ClinicalTrials.gov and PubMed are valuable resources for finding current research studies and articles related to this condition.

Genetic Testing: Genetic testing can confirm a diagnosis of Guanidinoacetate Methyltransferase Deficiency. Genetic testing can also identify the specific mutations in the GAMT gene, which is associated with this condition. Genetic testing is available through specialized centers and laboratories.

Genetic Inheritance: Guanidinoacetate Methyltransferase Deficiency is inherited in an autosomal recessive manner. This means that both parents must carry a mutation in the GAMT gene for a child to be affected. Genetic counseling can provide more information about the inheritance pattern and the likelihood of passing the condition on to future generations.

OMIM: Online Mendelian Inheritance in Man (OMIM) is an online catalog of human genes and genetic disorders. OMIM provides detailed information about the genetic causes, clinical features, and inheritance patterns of Guanidinoacetate Methyltransferase Deficiency.

Patient Support: Patient Support organizations are available to provide support and resources for individuals and families affected by Guanidinoacetate Methyltransferase Deficiency. These organizations can connect you with other individuals and families who are going through similar experiences, provide educational materials, and offer emotional support.

See also  PGAP2 gene

Additional Resources: There are additional resources available to learn more about Guanidinoacetate Methyltransferase Deficiency. These resources include articles, scientific publications, and online forums where individuals and families can share their experiences and learn from others.

References:

  • Rare Diseases: www.rarediseases.org
  • ClinicalTrials.gov: www.clinicaltrials.gov
  • PubMed: www.ncbi.nlm.nih.gov/pubmed
  • OMIM: www.omim.org

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the Guanidinoacetate Methyltransferase Deficiency (GAMT deficiency) and its associated genetic mutations. ClinicalTrials.gov is a comprehensive database that provides access to information about ongoing and completed clinical trials for various diseases and conditions.

GAMT deficiency is a rare genetic disorder caused by mutations in the GAMT gene. This gene is responsible for producing the enzyme guanidinoacetate methyltransferase, which is essential for the production of creatine. Without this enzyme, the body is unable to produce creatine, leading to a variety of developmental and neurological problems.

ClinicalTrials.gov provides a wealth of resources on GAMT deficiency, including information about the genetic inheritance pattern, clinical symptoms and presentation, and available treatments. By exploring the database, patients, caregivers, and healthcare professionals can learn more about this rare condition and find potential research studies that are actively recruiting patients.

The frequency of GAMT deficiency is estimated to be less than 1 in 1,000,000 individuals. Due to its rarity, there is limited scientific knowledge and understanding of the condition. However, with ongoing research studies, scientists and clinicians hope to gain more insights into the disease’s underlying mechanisms, as well as discover new treatment options.

ClinicalTrials.gov provides additional references and articles from PubMed, a scientific resource that contains a vast collection of medical literature. These articles can offer further information about the genetic mutations associated with GAMT deficiency and the latest advancements in research and treatment options.

The research studies listed on ClinicalTrials.gov may include testing new medications, therapies, or interventions to improve the quality of life for individuals with GAMT deficiency. These studies may take place at research centers and clinical institutions around the world, offering patients access to cutting-edge treatments and the opportunity to contribute to the development of new therapies for this rare and potentially treatable condition.

Advocacy organizations play a crucial role in supporting patients with GAMT deficiency and their families. These organizations provide resources, educational materials, and emotional support to help individuals cope with the challenges of living with this condition. By partnering with these organizations, patients can stay informed about the latest research studies, treatment options, and available support services.

In summary, research studies from ClinicalTrials.gov offer valuable insights into the genetic, clinical, and scientific aspects of Guanidinoacetate Methyltransferase Deficiency. As rare conditions like GAMT deficiency often lack comprehensive information, these studies provide a critical foundation for the development of new diagnostic tools, treatment options, and support resources for patients and their families.

Catalog of Genes and Diseases from OMIM

The Guanidinoacetate Methyltransferase Deficiency is a rare genetic condition associated with mutations in the GAMT gene. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the patient to have the condition.

Guanidinoacetate Methyltransferase Deficiency is characterized by the inability to convert guanidinoacetate into creatine, leading to the accumulation of guanidinoacetate in the body. This can cause a variety of symptoms, including intellectual disability, seizures, and developmental delay.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic diseases. It provides valuable information on the genetic basis of this condition, including the frequency and clinical features associated with the mutations in the GAMT gene.

OMIM also provides links to additional resources, such as scientific articles and clinical trials, for further learning and research. These resources can help support gene testing and the development of potential treatments for this rare genetic condition.

To learn more about Guanidinoacetate Methyltransferase Deficiency and its associated genes and diseases, you can visit the OMIM website and search for “Guanidinoacetate Methyltransferase Deficiency” or “GAMT gene.”

References:

Scientific Articles on PubMed

With the deficiency of guanidinoacetate methyltransferase, a clinical condition known as guanidinoacetate methyltransferase deficiency (GAMT deficiency) arises. Individuals with this deficiency have mutations in the GAMT gene, which is responsible for the production of the GAMT enzyme. The frequency of this genetic condition is rare, making it important for genetic testing centers to have additional resources for testing genes associated with GAMT deficiency inheritance.

Scientific information about GAMT deficiency can be found in the catalog of articles on PubMed, a database containing a comprehensive collection of research studies. PubMed provides valuable resources to learn more about rare genetic diseases, including GAMT deficiency. These resources include references to clinical trials, OMIM (Online Mendelian Inheritance in Man), and other research studies.

Research on guanidinoacetate methyltransferase deficiency is important for the development of treatments and to expand our understanding of the causes and effects of this condition. Although GAMT deficiency is a rare genetic disorder, it is treatable, and research is ongoing to improve the ability to diagnose and manage the condition.

In addition to scientific articles, there are advocacy and support groups for individuals with GAMT deficiency and their families. ClinicalTrials.gov is another useful resource to find information about ongoing clinical trials related to GAMT deficiency. The website offers support and opportunities to participate in research studies that may provide new insights into the condition and potential treatment options.

Overall, accessing scientific articles on PubMed can offer valuable knowledge about GAMT deficiency and other rare genetic diseases. It can provide insights into the genetic inheritance, clinical manifestations, and potential treatment options for individuals affected by this condition.

References

  • Craig J, Mundy H. Guanidinoacetate methyltransferase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2002-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1319/
  • De la Haba G, Cantoni GL. The enzymatic synthesis of creatine and guanidinoacetate. J Biol Chem. 1959;234(9):2544-7. PMID: 14425461.
  • van de Kamp JM, Pouwels PJ, Aarsen FK, et al. Long-term follow-up and treatment in guanidinoacetate methyltransferase deficiency. Mol Genet Metab. 2012;107(1-2):105-10. doi: 10.1016/j.ymgme.2012.06.002. Epub 2012 Jun 12. PMID: 22770982.
  • Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. doi: 10.1186/1750-1172-7-32. PMID: 22642880; PMCID: PMC3439348.
  • Kopple JD, Powell JG, Rector FC, Hurtle PH. Creatine metabolism in uremia. Kidney Int. 1983;23(5):643-8. doi: 10.1038/ki.1983.68. PMID: 6880788.

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