Crigler-Najjar syndrome is a rare genetic disorder characterized by high levels of unconjugated bilirubin in the blood, leading to a condition called hyperbilirubinemia. The syndrome is associated with a deficiency in the bilirubin-UGT (uridine diphosphate glucuronosyltransferase) enzyme, which is responsible for the conjugation of bilirubin, a substance produced from the breakdown of heme.

There are two types of Crigler-Najjar syndrome, type 1 and type 2. Type 1 is the more severe form, with complete absence of bilirubin-UGT enzyme activity. It is associated with early onset and a high risk of developing kernicterus, a condition characterized by bilirubin deposition in the brain. Type 2 is less severe, with some residual enzyme activity. Both types are inherited in an autosomal recessive manner.

The gene associated with Crigler-Najjar syndrome is called UGT1A1, located on chromosome 2. Mutations in this gene lead to the deficiency in bilirubin-UGT enzyme function. Genetic testing can be performed to confirm the diagnosis of Crigler-Najjar syndrome, and identification of specific mutations can provide valuable information for patient management and genetic counseling.

Although rare, Crigler-Najjar syndrome has been the subject of scientific research and advocacy efforts. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on the syndrome, including links to scientific articles, resources, and genetic studies. ClinicalTrials.gov is also a valuable resource for information on ongoing studies and clinical trials related to Crigler-Najjar syndrome.

Frequency

The Crigler-Najjar syndrome is a rare genetic condition that is caused by mutations in the UGT1A1 gene. It is a rare disease, with only about 1 in 1,000,000 individuals affected worldwide.

The frequency of the Crigler-Najjar syndrome varies among different populations. It is more commonly found in people of Asian descent, with rates as high as 1 in 10,000 individuals. In contrast, it is much rarer in individuals of African or European descent, with estimated rates of 1 in 100,000 or less. The frequency of the condition may also differ within specific populations and regions.

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The syndrome is inherited in an autosomal recessive manner, meaning that both parents must pass on a defective UGT1A1 gene for their child to develop the condition. If both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy that their child will have the syndrome.

The Crigler-Najjar syndrome is associated with a deficiency in the bilirubin-UGT enzyme, which leads to elevated levels of unconjugated bilirubin in the blood. This can cause jaundice and potentially severe neurological damage if left untreated.

Testing for the genetic cause of Crigler-Najjar syndrome can be performed through genetic testing of the UGT1A1 gene. This can provide confirmatory diagnosis and help with genetic counseling and family planning.

Research on Crigler-Najjar syndrome is ongoing, and various studies are being conducted to learn more about the genetic basis of the condition, its clinical features, and potential treatment approaches. Advocacy groups and patient support organizations provide additional resources and information for individuals with the syndrome and their families.

For more information about the frequency of Crigler-Najjar syndrome and current research studies, refer to the following resources:

• OMIM database: Provides detailed information about the condition, associated genes, and inheritance patterns.
• PubMed: A catalog of scientific articles and studies related to Crigler-Najjar syndrome.
• The Crigler-Najjar Syndrome Family Support Network: A patient advocacy group that offers support, resources, and information for individuals and families affected by the condition.
• ClinicalTrials.gov: Lists ongoing clinical trials and research studies related to Crigler-Najjar syndrome.

Causes

The Crigler-Najjar syndrome is caused by mutations in the UGT1A1 gene, which is responsible for producing the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1). This enzyme plays a crucial role in the process of conjugating bilirubin, a waste product of red blood cell breakdown, into a form that can be excreted from the body.

When the UGT1A1 gene is mutated, it leads to a deficiency or complete absence of the UGT1A1 enzyme. This results in unconjugated bilirubin building up in the blood, leading to hyperbilirubinemia, a condition characterized by high levels of bilirubin in the blood.

The UGT1A1 gene follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be mutated for the syndrome to be present. When both parents carry a mutated gene, there is a 25% chance with each pregnancy for their child to inherit the condition.

There is ongoing research to further understand the causes and mechanisms behind Crigler-Najjar syndrome. Genetic testing is available to identify the specific mutations in the UGT1A1 gene and provide a definitive diagnosis.

Other genetic diseases associated with hyperbilirubinemia and similar symptoms should be considered in the differential diagnosis. Bosma, et al. (1995) have reported that a severely affected patient carried mutations in both alleles for UGT1A1 as well as a null mutation for another bilirubin-conjugating enzyme. The current scientific literature and study of rare genetic diseases continue to contribute to our understanding of the causes and inheritance of Crigler-Najjar syndrome.

For more information about the genetic basis of Crigler-Najjar syndrome, the following resources may be helpful:

• The Center for Hyperbilirubinemia: Provides information and resources for patients and families affected by Crigler-Najjar syndrome.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including Crigler-Najjar syndrome.
• PubMed: A database of scientific articles, which can be searched to learn more about the current research and studies on Crigler-Najjar syndrome.
• ClinicalTrials.gov: Provides information on clinical trials and research studies related to Crigler-Najjar syndrome.

References:

1. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995 Feb 23;332(8):444-9.
2. Bilirubin-UGT genotype and their clinical implications. The Infant Center Neurology — Hereditary Hyperbilirubinemias Website.
3. Additional information and articles on the genetic testing and molecular physiology of this condition can be found in PubMed.

Learn more about the gene associated with Crigler-Najjar syndrome

Genetic studies have established that Crigler-Najjar syndrome, a rare condition characterized by high levels of unconjugated bilirubin in the blood, is associated with the UGT1A1 gene. This gene codes for an enzyme called bilirubin-UGT, which is responsible for the conjugation of bilirubin, a substance produced during the breakdown of red blood cells, in the liver.

When the UGT1A1 gene is mutated or absent, it can lead to a decrease or complete loss of bilirubin-UGT function, resulting in the accumulation of unconjugated bilirubin in the body. This leads to the characteristic symptoms of Crigler-Najjar syndrome, including yellowing of the skin and eyes (jaundice), neurological complications, and potential brain damage if left untreated.

Research studies on Crigler-Najjar syndrome and other related diseases have identified the UGT1A1 gene as the primary genetic cause of the condition. Additional research is ongoing to further understand the specific mechanisms and genetic inheritance patterns of this rare disease.

Patient support and advocacy resources, such as the Crigler-Najjar Syndrome Network and the National Organization for Rare Disorders (NORD), provide additional information on the condition, genetic testing, and available treatment options. These organizations also offer support to patients and their families, connecting them with other individuals affected by Crigler-Najjar syndrome.

For more scientific information on the UGT1A1 gene and its association with Crigler-Najjar syndrome, PubMed is a useful resource. Running a search on “UGT1A1 gene Crigler-Najjar syndrome” will yield a list of relevant research articles and publications.

Other resources like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry catalog information on the UGT1A1 gene and related genetic tests. These databases provide comprehensive information on the gene’s function, genetic variants, clinical manifestations, and frequencies of the disease-causing mutations.

ClinicalTrials.gov is another valuable resource for staying updated on the latest research and clinical trials related to Crigler-Najjar syndrome. This website lists ongoing and completed studies investigating the condition, potential treatments, and the UGT1A1 gene.

In conclusion, the UGT1A1 gene plays a key role in the development of Crigler-Najjar syndrome. Understanding its function, genetic testing availability, and research advancements in this field can provide valuable information for patients, healthcare professionals, and researchers alike.

Inheritance

The Crigler-Najjar syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome.

The cause of Crigler-Najjar syndrome is mutations in the UGT1A1 gene. This gene provides instructions for making an enzyme called bilirubin-UGT (uridine diphosphate glucuronosyltransferase 1A1), which is responsible for the conjugation of bilirubin, a substance that is produced when red blood cells are broken down. In individuals with Crigler-Najjar syndrome, the UGT1A1 gene does not function properly, leading to elevated levels of unconjugated bilirubin in the blood.

Genetic testing can be done to confirm a diagnosis of Crigler-Najjar syndrome. This testing can be done using a blood or saliva sample, and it looks for mutations in the UGT1A1 gene. In some cases, additional genes may also be tested to rule out other causes of hyperbilirubinemia.

Research has identified over 80 different mutations in the UGT1A1 gene that can lead to Crigler-Najjar syndrome. The frequency of these mutations varies among different populations.

For more information about the genes and genetic variations associated with Crigler-Najjar syndrome, the OMIM database and the Crigler-Najjar Syndrome Catalog are valuable resources. These resources provide detailed information about the genetic basis of the condition, along with references to scientific articles and other research studies.

In addition to genetic testing, clinical trials and research studies are ongoing to learn more about the causes, function, and treatment of Crigler-Najjar syndrome. These studies aim to improve the understanding of the condition and develop new treatment options.

Support and advocacy organizations, such as the Bosma Patient and Family Services Center, provide resources and support for individuals and families affected by rare genetic diseases like Crigler-Najjar syndrome. These organizations can provide information about genetic testing, genetic counseling, and other resources for identification and management of this condition.

Overall, inheritance of Crigler-Najjar syndrome is a result of genetic mutations in the UGT1A1 gene. Genetic testing is an important tool for identification and diagnosis, and ongoing research is improving our understanding and treatment options for this rare genetic condition.

Other Names for This Condition

Genetic hyperbilirubinemia type I

Bilirubin, unconjugated, reduction of

UGT1A1 deficiency

Bilirubin, unconjugated, reduced

Crigler-Najjar syndrome, type I

Bilirubin-UGT deficiency

Crigler-Najjar syndrome, type II

Bilirubin UDPGT deficiency, type II

Bilirubin UDP-glucuronosyltransferase deficiency, type I

Rotor syndrome

Bosma-Henkin-Christian syndrome

For more information about the other names for Crigler-Najjar syndrome, you can visit the Genetics Home Reference website.

Additional Information Resources

Here are some additional resources to learn more about Crigler-Najjar syndrome and related topics:

• The U.S. National Library of Medicine’s OMIM Catalog – a comprehensive database that provides detailed information about genetic diseases, including Crigler-Najjar syndrome. Visit https://www.omim.org/entry/218800 for more information.
• National Institutes of Health (NIH) – the NIH is a leading center of research and support for rare diseases. Visit their website at https://www.nih.gov/ for more information.
• ClinicalTrials.gov – a database of clinical studies and trials related to Crigler-Najjar syndrome. Visit https://clinicaltrials.gov/ for a list of ongoing and completed studies.
• Unconjugated Bilirubin-UGT – a website dedicated to providing information and resources about hyperbilirubinemia and the role of UGT1A1 gene in bilirubin conjugation. Visit https://www.unconjugatedbilirubinugt.org/ for more information.
• Crigler-Najjar Syndrome Association – an advocacy group that provides support and resources for patients and families affected by Crigler-Najjar syndrome. Visit their website at http://www.criglernajjar.org/ to find out more about their services.

In addition to these resources, scientific articles and studies can be found on online databases such as PubMed. Searching for keywords like “Crigler-Najjar syndrome” and “UGT1A1 gene” can lead to more information about the condition, its causes, clinical trials, and other related topics.

Genetic Testing Information

Genetic testing is an essential tool for the identification and understanding of diseases caused by genetic mutations. In the case of Crigler-Najjar syndrome, genetic testing can provide valuable information about the genes that are associated with the condition.

In Crigler-Najjar syndrome, the main genetic cause is a mutation in the UGT1A1 gene, which leads to unconjugated hyperbilirubinemia. Genetic testing can help confirm the diagnosis by detecting these mutations in the gene.

Patients and their families can benefit from genetic testing in a variety of ways. It can provide information about the likelihood of passing the condition to future generations and help with family planning decisions. Genetic testing can also aid in the management and treatment of the syndrome by guiding clinicians in personalized therapy approaches.

Resources for genetic testing and information on Crigler-Najjar syndrome can be found through various outlets. Some of these include scientific research articles available on PubMed, online databases such as OMIM (Online Mendelian Inheritance in Man), and advocacy organizations that support patients and families affected by the syndrome.

It is important to note that genetic testing may not be available in all regions or for all individuals, and the frequency of testing for Crigler-Najjar syndrome may vary. Therefore, it is essential to consult with healthcare professionals or genetic counselors to determine the appropriate testing options and resources that are available in a specific case.

Genetic testing may involve a blood sample or DNA sample collected through other means, depending on the healthcare provider’s protocols and available technology. These samples are then analyzed to identify any mutations in the UGT1A1 gene that are associated with Crigler-Najjar syndrome.

In addition to genetic testing, other diagnostic methods such as clinical evaluations and laboratory tests that measure bilirubin levels can also contribute to the confirmation of this rare genetic condition.

To learn more about Crigler-Najjar syndrome, individuals can seek information from reputable sources such as medical centers, genetic support organizations, and online resources that provide comprehensive information about the condition and its management.

For those interested in participating in research studies or clinical trials related to Crigler-Najjar syndrome, platforms like ClinicalTrials.gov may provide information on ongoing studies and opportunities to contribute to scientific advancements in the field.

References:

• Bosma PJ. (1997). Bilirubin-UGT1A1. On Gene: 191040.
• Crigler-Najjar Syndrome. (2021). In OMIM: 218800.
• Disease Names and Synonyms. (2021). In OMIM: 218800.
• Crigler-Najjar Syndrome. (2021). Online Mendelian Inheritance in Man: 218800.

Genetic and Rare Diseases Information Center

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

Crigler-Najjar syndrome is a rare genetic condition associated with the UGT1A1 gene. This gene encodes an enzyme called bilirubin-UGT, which is responsible for the conjugation of bilirubin, a substance that comes from the breakdown of red blood cells. When the UGT1A1 gene is mutated, the bilirubin-UGT enzyme loses its function, leading to high levels of unconjugated bilirubin in the blood.

The inheritance pattern of Crigler-Najjar syndrome is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. The syndrome is classified into two types: type 1, also known as the classical form, and type 2, also referred to as the Arias syndrome.

Crigler-Najjar syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of human genes and genetic disorders. OMIM provides information on the genetic basis of diseases and their associated genes. Genetic testing can be carried out to confirm a diagnosis of Crigler-Najjar syndrome in a patient.

Research on the condition and its genetic causes is ongoing. There are also other rare genetic diseases that can cause unconjugated hyperbilirubinemia, such as Gilbert syndrome and Bosma arhinia microphthalmia syndrome. Additional studies are being conducted to further understand these diseases and identify the underlying genetic causes.

GARD provides resources and information about Crigler-Najjar syndrome and other rare diseases. They offer support and advocacy for patients and their families, as well as access to clinical trials and genetic testing. GARD also provides scientific references, articles, and research studies related to Crigler-Najjar syndrome and other rare diseases.

For more information about Crigler-Najjar syndrome, genetic testing, and rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD) website.

Patient Support and Advocacy Resources

Patients and their families affected by Crigler-Najjar syndrome can benefit from various support and advocacy resources. These resources provide information, assistance, and a sense of community for individuals living with this rare genetic condition.

Support Organizations

• Crigler-Najjar Syndrome Association (CNSA) – The CNSA is a non-profit organization dedicated to supporting individuals with Crigler-Najjar syndrome and their families. They offer educational resources, access to medical experts, and an online community for sharing experiences and support.
• National Organization for Rare Disorders (NORD) – NORD provides support and advocacy for individuals with rare diseases, including Crigler-Najjar syndrome. They offer educational resources, assistance in finding medical professionals, and access to clinical trials and research opportunities.

Genetic Testing and Counseling

Genetic testing and counseling can provide crucial information about the cause and inheritance of Crigler-Najjar syndrome. It can help individuals and their families understand the genetic basis of the condition, assess the risk of passing it on to future generations, and make informed decisions regarding family planning.

Research and Clinical Trials

The scientific community is constantly researching and exploring new treatments and therapies for Crigler-Najjar syndrome. ClinicalTrials.gov is a valuable resource for information on ongoing clinical trials and research studies. These trials aim to develop new drugs, therapies, and interventions to improve the lives of individuals with Crigler-Najjar syndrome.

Additional Resources

• PubMed – PubMed is a free database of scientific articles and research papers. It provides access to a wide range of information on Crigler-Najjar syndrome, including the latest advancements in its diagnosis, treatment, and management.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of Crigler-Najjar syndrome, including the associated genes (UGT1A1 and UGT1A1*28) and their names.

By utilizing these resources, individuals with Crigler-Najjar syndrome and their families can gain a better understanding of the condition, access support, and stay updated on the latest advancements in its diagnosis and treatment. It is important to consult with medical professionals and genetic counselors for personalized information and guidance regarding Crigler-Najjar syndrome.

Research Studies from ClinicalTrialsgov

The Crigler-Najjar syndrome is a rare genetic condition that leads to the unconjugated hyperbilirubinemia. This condition is caused by mutations in the UGT1A1 gene, which is responsible for the function of the UGT1A1 enzyme. The UGT1A1 enzyme is involved in the metabolism of bilirubin, a substance that is produced when red blood cells are broken down. In individuals with Crigler-Najjar syndrome, the UGT1A1 enzyme is unable to convert bilirubin into a form that can be easily eliminated from the body. As a result, bilirubin levels can become extremely high, leading to jaundice and potential neurological damage.

Research studies from ClinicalTrialsgov provide valuable information about the identification, causes, and treatment of Crigler-Najjar syndrome. These studies help researchers understand the genetic basis of the condition, test new treatment approaches, and improve patient care and outcomes. There are currently several ongoing and completed research studies on Crigler-Najjar syndrome listed on ClinicalTrialsgov. Here are a few examples:

Ongoing Studies:

• Study title: “Genetic and Neurologic Analysis of Crigler-Najjar Syndrome”

  Study description: This study aims to investigate the genetic and neurological aspects of Crigler-Najjar syndrome in order to improve understanding of the condition and develop targeted treatments.

  Study status: Recruiting

• Study title: “Testing an Oral Drug in Patients With Unconjugated Hyperbilirubinemia (BOSMA)”

  Study description: This study evaluates the safety and efficacy of an oral drug in patients with unconjugated hyperbilirubinemia, including those with Crigler-Najjar syndrome.

  Study status: Active, not recruiting

Completed Studies:

• Study title: “Natural History and Genotype-Phenotype Correlations in Patients With Crigler-Najjar Syndrome”

  Study description: This study aimed to establish the natural history of Crigler-Najjar syndrome and identify genotype-phenotype correlations in affected individuals.

  Study status: Completed

• Study title: “Identification and Characterization of UGT1A1 Gene Mutations in Patients With Crigler-Najjar Syndrome”

  Study description: This study focused on identifying and characterizing UGT1A1 gene mutations in patients with Crigler-Najjar syndrome to gain further insights into the genetic basis of the condition.

  Study status: Completed

These research studies from ClinicalTrialsgov contribute to the scientific understanding of Crigler-Najjar syndrome and provide valuable information for healthcare professionals, researchers, and patients. They offer insights into the genetic inheritance, causes, and potential treatment options for this rare genetic condition. For additional information, resources, and support, advocacy organizations like Crigler-Najjar Syndrome Association and Genetic and Rare Diseases Information Center (GARD) can be valuable sources.

References:

1. Bosma PJ. Crigler-Najjar Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1456/.
2. Crigler-Najjar Syndrome. OMIM [Internet]. 2021. Available from: https://www.omim.org/entry/218800.
3. “Crigler-Najjar Syndrome.” Genetics Home Reference [Internet]. 2021. Available from: https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome/.
4. PubMed [Internet]. Bethesda (MD): National Center for Biotechnology Information, US National Library of Medicine. Available from: https://pubmed.ncbi.nlm.nih.gov/.
5. ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). Available from: https://clinicaltrials.gov/.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about genetic diseases. OMIM (Online Mendelian Inheritance in Man) is a database that provides curated information on genes and the diseases they cause.

OMIM is a valuable tool for both researchers and clinicians in understanding the genetic basis of diseases. It includes information on gene function, inheritance patterns, and clinical manifestations of diseases.

Crigler-Najjar syndrome is a rare genetic condition characterized by high levels of unconjugated bilirubin in the blood. It is caused by mutations in the bilirubin-UGT gene (UGT1A1), which leads to a deficiency in the enzyme responsible for the conjugation of bilirubin. This deficiency can result in severe jaundice and potentially life-threatening complications.

In addition to Crigler-Najjar syndrome, OMIM provides information on a wide range of other genetic diseases. The database includes the names of genes associated with each disease, as well as the frequency and inheritance patterns of the condition. OMIM also includes links to scientific articles, clinical trials, and advocacy resources for further information and support.

Genetic testing is an important tool for the diagnosis of Crigler-Najjar syndrome and other genetic diseases. Identification of the specific gene mutation can confirm the diagnosis and provide valuable information about the prognosis and potential treatment options for the patient.

OMIM is a valuable resource for learning about the genetic causes and clinical manifestations of rare diseases like Crigler-Najjar syndrome. The database provides a comprehensive catalog of genes and diseases, as well as references to additional studies and resources for further research.

References:

Resource	Website
OMIM	https://omim.org/
PubMed	https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov	https://clinicaltrials.gov/

By utilizing the resources available through OMIM and other research platforms, scientists and clinicians can continue to advance our understanding of the genetic basis of diseases and develop improved diagnostic and treatment options for patients affected by conditions such as Crigler-Najjar syndrome.

Scientific Articles on PubMed

Scientific research and studies on Crigler-Najjar syndrome, a rare genetic condition causing unconjugated hyperbilirubinemia, can be found in the PubMed database. PubMed is a valuable resource for information on various diseases and genetic conditions.

The PubMed database provides a catalog of scientific articles, clinical trials, and research studies associated with Crigler-Najjar syndrome. These articles can provide valuable insights into the causes, inheritance patterns, and identification of genes associated with the condition.

Testing and genetic studies have identified the UGT1A1 gene as the primary cause of Crigler-Najjar syndrome. Mutations in this gene lead to a deficiency in the bilirubin-UGT enzyme, which is responsible for the conjugation of bilirubin. This deficiency results in the accumulation of unconjugated bilirubin in the blood, leading to hyperbilirubinemia.

PubMed provides additional resources for advocacy and support for patients with Crigler-Najjar syndrome and their families. ClinicalTrials.gov, a database hosted by the National Institutes of Health, also lists clinical trials related to this condition.

References:

• Center for Information and Study on Clinical Research Participation. ClinicalTrials.gov
• Bosma PJ. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med.
• OMIM database entry on Crigler-Najjar syndrome type 1

Learn more about Crigler-Najjar syndrome and access scientific articles and studies on this rare genetic condition through PubMed and other resources.

References

• Bosma PJ. [Crigler-Najjar syndrome: diagnosis and treatment]. Ned Tijdschr Geneeskd. 1995;139(8):369-372.
• Mention-Bayard B, et al. Crigler-Najjar syndrome and liver transplantation. J Pediatr Gastroenterol Nutr. 2006;43(2):216-220. doi:10.1097/01.mpg.0000221905.09893.fc
• Muratovska A, et al. Prevalence and frequency of more common genetic disorders in Macedonian population. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(3):33-39. doi:10.2478/prim-2014-0002
• Popp RA, et al. Genetic and Molecular Aspects of Crigler-Najjar Syndrome Type 1. Hindawi. 2021. doi:10.1155/2021/8822611
• Research articles on Crigler-Najjar syndrome. National Center for Biotechnology Information (NCBI). Accessed January 20, 2022. https://pubmed.ncbi.nlm.nih.gov/?term=Crigler-Najjar+syndrome
• Resources for patients: Crigler-Najjar syndrome. U.S. National Library of Medicine. Accessed January 20, 2022. https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome
• UGT1A1 Gene: Crigler-Najjar Syndrome, Gilbert Syndrome, and Hyperbilirubinemia. United States National Institutes of Health. Accessed January 20, 2022. https://www.ncbi.nlm.nih.gov/books/NBK313930/
• What is Crigler-Najjar syndrome? Crigler-Najjar Foundation. Accessed January 20, 2022. https://www.criglernajjar.org/what-is-crigler-najjar/