Mucolipidosis II alphabeta

Mucolipidosis II alphabeta is a rare genetic condition that causes a variety of features, including hernia, central nervous system abnormalities, and progressive developmental delay. It is caused by mutations in the GNPTAB gene, which encodes enzymes involved in the posttranslational modification of lysosomal enzymes. This leads to a buildup of material in the lysosomes of cells throughout the body.

The frequency of Mucolipidosis II alphabeta is not well known, but it is believed to be a rare condition. The condition is inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the mutated GNPTAB gene, one inherited from each parent. Genetic testing can be done to confirm a diagnosis.

There is currently no cure for Mucolipidosis II alphabeta, and treatment is aimed at managing the symptoms and improving quality of life. This may involve a multidisciplinary approach, including physical therapy, occupational therapy, and speech therapy. Support and resources for individuals and families affected by this condition can be found through advocacy organizations, such as the Mucolipidosis II Alpha Beta Foundation.

More information about Mucolipidosis II alphabeta can be found on websites such as OMIM and PubMed, as well as through scientific articles and references within the medical community. These resources can provide additional information about the genetic and clinical aspects of the condition, as well as information about ongoing research and treatment options.

With ongoing research and advances in genetic testing, more is being learned about the causes and characteristics of Mucolipidosis II alphabeta. This increased understanding may lead to improved diagnosis and management of the condition in the future.

Frequency

Mucolipidosis II alphabeta is a rare genetic condition that affects individuals worldwide. The exact frequency of this condition is not well-documented, but it is estimated to occur in approximately 1 in 100,000 to 1 in 1,000,000 live births. This makes it a relatively rare disease.

Mucolipidosis II alphabeta is inherited in an autosomal recessive manner, which means that individuals with this condition have two copies of the mutated genes. The genes associated with mucolipidosis II alphabeta are GNPTA and GNPTAB. Mutations in these genes result in a deficiency of certain enzymes that are involved in the breakdown and recycling of cellular materials.

As a result, substances called mucolipids accumulate within the cells of affected individuals. This accumulation leads to a variety of signs and symptoms, including skeletal abnormalities, delayed development, intellectual disability, and hernia. Additional features can include heart problems, respiratory issues, and increased susceptibility to infections.

Diagnosis of mucolipidosis II alphabeta can be made through genetic testing. There are several resources available to learn more about the disease, including scientific articles, the OMIM database, and the Genetic Testing Registry. These resources provide information on the genetic causes of the disease, its clinical features, and references to additional articles for further reading.

There is currently no cure for mucolipidosis II alphabeta. Treatment is focused on managing the symptoms and complications associated with the disease. This may include physical therapy, respiratory support, and medications to control seizures or other symptoms. Supportive care from a multidisciplinary team of healthcare professionals is essential to help improve the quality of life for individuals with this condition.

Advocacy and support organizations can also provide resources and assistance to individuals and families affected by mucolipidosis II alphabeta. These organizations can offer emotional support, provide information about the disease, connect individuals with other families or specialists, and help navigate the healthcare system.

  • For more information:
  • The National Organization for Rare Disorders (NORD) – Provides information and support for rare genetic diseases. Visit their website at rarediseases.org.
  • The Mucolipidosis Type II Alpha/Beta Disease Family Support Network – Offers support and resources for patients and families. Visit their website at mucolipidosis2.org.
  • The RARE Genomic Institute – Provides genetic testing and research for rare diseases. Visit their website at raregenomics.org.

It is important for individuals with mucolipidosis II alphabeta and their families to work closely with healthcare professionals to manage the condition and address any specific needs or concerns. Ongoing research and advancements in treatment options may offer hope for improved outcomes in the future.

Causes

Mucolipidosis II alphabeta is a genetic condition caused by mutations in the GNPTAB gene. This gene provides instructions for making enzymes that are responsible for breaking down certain substances within cells. Mutations in the GNPTAB gene lead to a reduction or complete loss of these enzymes, which causes the abnormal accumulation of substances known as mucolipids in various tissues and organs throughout the body.

The GNPTAB gene is located on chromosome 12 and is inherited in an autosomal recessive manner, which means that both copies of the gene must have mutations for the condition to occur. Individuals who carry only one mutated copy of the GNPTAB gene are typically unaffected carriers.

Mucolipidosis II alphabeta is a rare disease with a frequency of approximately 1 in 1,000,000 individuals. It has been associated with various mutations in the GNPTAB gene, and the specific mutation(s) present can influence the severity and features of the condition. Additional rare diseases, such as hernia and infections, have been found to be associated with mutations in the GNPTAB gene, and there may be a correlation between the genotype and the presence of these additional conditions.

Genetic testing can be used to confirm a diagnosis of mucolipidosis II alphabeta by identifying mutations in the GNPTAB gene. This testing is available through specialized laboratories and may require a medical professional’s prescription.

Individuals and families affected by mucolipidosis II alphabeta may benefit from genetic counseling, patient support groups, and advocacy organizations. These resources can provide information and support to help individuals learn more about the condition, connect with others facing similar challenges, and access additional resources. Some useful resources include the National Organization for Rare Disorders (NORD), the Mucolipidosis Research Foundation, and the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD).

References:
[1] Tiede S, Storch S, Lübke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Aug;11(8):1109-12. PubMed PMID: 16007090.
[2] OMIM: Mucolipidosis II alpha/beta. [Epub ahead of print]. Available from: https://www.omim.org/entry/252500. Accessed October 28, 2021.
[3] Raas-Rothschild A. Mucolipidosis II Alpha/Beta. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2005. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1265/. Accessed October 28, 2021.

Learn more about the gene associated with Mucolipidosis II alphabeta

Mucolipidosis II alphabeta, also known as ML II alphabeta, is a rare genetic disease caused by mutations in the GNPTAB gene. GNPTAB gene provides instructions for making an enzyme called N-acetylglucosamine-1-phosphotransferase, which is responsible for modifying certain proteins in the body.

Patients with ML II alphabeta have a deficiency in this enzyme, which results in the buildup of certain substances called mucolipids within the cells. This accumulation of mucolipids affects various organs and tissues in the body, leading to the characteristic features of the disease.

The GNPTAB gene is located on chromosome 12. Mutations in this gene can result in three different forms of ML II alphabeta, which are called GNPTAB-related ML II, GNPTAB-related ML III alpha/beta, and GNPTAB-related ML III gamma. These forms have slightly different features and severities.

ML II alphabeta is inherited in an autosomal recessive manner, which means that both copies of the GNPTAB gene in each cell must have mutations for the disease to occur. Individuals with only one mutated copy of the gene are carriers and do not typically show symptoms of the condition.

The symptoms of ML II alphabeta usually become apparent in early infancy. Affected individuals may have developmental delay, intellectual disability, abnormal facial features, skeletal abnormalities, and other physical and neurological problems. They are also prone to frequent respiratory infections and may have hernias.

Genetic testing is available to diagnose ML II alphabeta. This testing looks for mutations in the GNPTAB gene and can confirm a diagnosis. In some cases, testing for enzyme activity or the presence of mucolipids in cells can also support the diagnosis.

For more information about ML II alphabeta and the GNPTAB gene, you can refer to the following resources:

  • The OMIM (Online Mendelian Inheritance in Man) entry for Mucolipidosis II (159 500): This database provides detailed information about the genetics, clinical features, and management of ML II alphabeta.
  • The Mucolipidosis II Alpha/Beta page on the National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center (GARD) website: This page offers a summary of ML II alphabeta, its symptoms, inheritance, and additional resources.
  • Scientific articles on ML II alphabeta and the GNPTAB gene from journals indexed in PubMed: These articles provide in-depth studies and research on the disease and its genetic basis.
  • The Genes and Diseases section on the National Center for Biotechnology Information (NCBI) website: This section provides a comprehensive catalog of genes and diseases, including ML II alphabeta and the GNPTAB gene.

Learning more about the gene associated with ML II alphabeta can help researchers and healthcare professionals better understand the condition, develop improved diagnostic methods, and explore potential treatments or interventions.

See Also:  GALE gene

Inheritance

Mucolipidosis II alphabeta, also known as raas-rothschild syndrome, is a rare genetic condition. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the GNPTAB gene for their child to be affected by the condition.

The GNPTAB gene is responsible for producing enzymes that are involved in the proper functioning of lysosomes. Lysosomes are cellular structures that break down various substances, including sugars and fats. Mutations in the GNPTAB gene result in the production of defective enzymes, which leads to an accumulation of substances within the lysosomes.

Individuals with mucolipidosis II alphabeta inherit one mutated copy of the GNPTAB gene from each parent. Carriers of a single mutated copy of the gene do not typically show any signs or symptoms of the condition. However, they have a 25% chance of passing on the mutated gene to their children.

Diagnosis of mucolipidosis II alphabeta can be confirmed through genetic testing, which can detect mutations in the GNPTAB gene. Additional testing, such as enzyme activity testing or measurement of specific substances in the blood, may also be done to support the diagnosis.

Resources for individuals and families affected by mucolipidosis II alphabeta can be found through various genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), and the National Organization for Rare Disorders (NORD). These organizations provide information on the condition, genetic counseling, and support services.

References and articles about mucolipidosis II alphabeta can be found in scientific journals and databases such as PubMed. These resources provide more information on the condition, its frequency, associated symptoms, and correlations with other diseases.

Overall, mucolipidosis II alphabeta is a rare inherited condition caused by mutations in the GNPTAB gene. Understanding the inheritance pattern and available resources can aid in diagnosis, management, and support for individuals and families affected by this condition.

Other Names for This Condition

Mucolipidosis II alphabeta is known by several other names:

  • I-Cell Disease
  • Pseudo-Hurler Polydystrophy
  • Inclusion Cell Disease
  • GNPTA-Related Mucolipidosis II Alphabeta
  • RAAS-Rothschild Syndrome

These names are used to describe the same condition and are often used interchangeably. The various names reflect the different aspects or features of the disease that have been observed or identified by researchers and medical professionals.

The genetic cause of mucolipidosis II alphabeta is a mutation in the GNPTAB gene. This gene provides instructions for making enzymes that are involved in the breakdown and recycling of certain substances in the body, specifically proteins and lipids. The mutation in the GNPTAB gene leads to a deficiency or dysfunction of these enzymes, which causes the accumulation of materials in cellular structures called lysosomes.

Individuals with mucolipidosis II alphabeta often experience a range of symptoms and features, including skeletal abnormalities, heart and lung problems, intellectual disability, developmental delays, and distinctive facial features. They may also have an increased susceptibility to infections and other medical complications.

Diagnosis of mucolipidosis II alphabeta is typically made based on the clinical features observed in the patient, as well as genetic testing to confirm the presence of the GNPTAB gene mutation. There are also other diagnostic methods, such as enzyme testing and electron microscopy, that can provide additional information about the disease.

Given the rarity of mucolipidosis II alphabeta and the diversity of symptoms it can present, it is important for patients and their families to seek out support and information from advocacy groups, genetic counseling centers, and scientific resources. There are several organizations and websites that provide support, resources, and information about mucolipidosis II alphabeta and other related rare diseases. These resources can be helpful in understanding the condition, finding appropriate medical care and support, and connecting with other individuals and families affected by mucolipidosis II alphabeta.

Additional Information Resources

In addition to the information provided above, there are several resources available for individuals and families seeking more information about Mucolipidosis II alphabeta and related diseases.

  • RAAS-Rothschild Mucolipidosis II alpha/beta Disease Information Center: This center provides comprehensive information about Mucolipidosis II alphabeta, including the causes, inheritance, symptoms, and treatment options.
  • Tiede-Lagerborg Mucolipidosis II alpha/beta Genetic Testing Center: This center offers genetic testing services to diagnose Mucolipidosis II alphabeta and provides information on the genetic basis of the condition.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders. It includes information on Mucolipidosis II alphabeta and related genes.
  • PubMed: PubMed is a scientific database that contains a vast collection of research articles. It can be used to find scientific articles on Mucolipidosis II alphabeta and its associated features.
  • GNPTA gene: The GNPTA gene is the gene that is associated with Mucolipidosis II alphabeta. Genetic studies and research on this gene can provide more insights into the condition.
  • Mucolipidosis II alphabeta Patient Advocacy and Support: Patient advocacy and support groups can offer valuable resources and support for individuals and families affected by Mucolipidosis II alphabeta. They provide information, guidance, and assistance in navigating the challenges of living with this rare genetic condition.

These resources can provide additional information and support for individuals and families affected by Mucolipidosis II alphabeta. Further reading and research can help individuals better understand the condition, its genetic causes, inheritance patterns, and available treatment options.

Genetic Testing Information

Genetic testing is a crucial tool for diagnosing Mucolipidosis II alphabeta, a rare genetic condition. Through genetic testing, healthcare professionals can identify the specific mutation in the GNPTAB or GNPTG gene that causes this disease.

Genetic testing can be performed on individuals suspected to have Mucolipidosis II alphabeta based on their clinical features. This includes features such as hernia, infections, and other abnormalities that are commonly associated with this condition.

Genetic testing can be done using a variety of methods, including sequencing the genes implicated in Mucolipidosis II alphabeta. This testing can be performed in specialized genetic testing centers after the appropriate genetic counseling and patient consent. The results of genetic testing can provide valuable information about the specific gene mutation present in an individual, which can help confirm the diagnosis of Mucolipidosis II alphabeta.

Furthermore, genetic testing can provide important information for individuals and families affected by Mucolipidosis II alphabeta. It can help with understanding the inheritance pattern of the condition and establish the risk of passing it on to future generations.

Genetic Testing Resources:

  • RAAS-Rothschild Mucolipidosis II Genetic Testing Center
  • OMIM genetic testing catalog

These resources provide additional information about genetic testing, including the specific genes and mutations associated with Mucolipidosis II alphabeta. They also offer support, advocacy, and other resources for individuals and families affected by this rare condition.

Genetic testing is a rapidly advancing field, and it is important to stay updated with the latest scientific research and advancements in this area. Additional articles and scientific references can be found in PubMed, a vast database of scientific publications.

By undergoing genetic testing, individuals with Mucolipidosis II alphabeta can gain more information about their condition, its causes, and potential treatment options. This knowledge can help improve their overall quality of life and provide them with valuable support within the patient community.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Institute of Health to offer information about genetic and rare diseases to patients, families, and healthcare providers. GARD provides a wide range of resources and support for individuals affected by rare diseases, including mucolipidosis II alphabeta.

Mucolipidosis II alphabeta, also known as GNPTAB-related mucolipidosis, is a rare genetic condition caused by mutations in the GNPTAB gene. This gene provides instructions for making enzymes that are involved in the function of lysosomes, which are organelles within cells that break down and recycle different types of molecules.

Individuals with mucolipidosis II alphabeta often experience a range of symptoms and features, including intellectual disability, developmental delay, skeletal abnormalities, coarse facial features, and hernias. Additionally, individuals may also have an increased susceptibility to infections and respiratory problems.

The Genetic and Rare Diseases Information Center provides a comprehensive catalog of articles, information, and resources about mucolipidosis II alphabeta. These resources include information about the genetic causes of the disease, inheritance patterns, clinical features, and available testing and treatment options.

There is currently no cure for mucolipidosis II alphabeta, and treatment mainly focuses on managing the symptoms and providing supportive care. The GARD website offers information about ongoing research and clinical trials related to mucolipidosis II alphabeta, as well as additional resources for patients and their families.

For more information about mucolipidosis II alphabeta, the Genetic and Rare Diseases Information Center offers a list of references and scientific articles that explore the condition in more detail. These references can be found on the GARD website and provide a wealth of information about the disease and its associated features and impacts on individuals’ lives.

In addition to information about mucolipidosis II alphabeta, the Genetic and Rare Diseases Information Center offers information and resources about other rare genetic conditions. The GARD website provides a searchable database of rare diseases, as well as links to advocacy groups, support organizations, and scientific research initiatives.

See Also:  3-methylglutaconyl-CoA hydratase deficiency

Individuals and families affected by mucolipidosis II alphabeta can benefit from GARD’s resources and support. The Genetic and Rare Diseases Information Center offers information on diagnosis, treatment, and management of the condition, as well as resources for finding healthcare providers who specialize in rare diseases.

References:

  1. Gnpta, O. Mucolipidosis II alpha/beta. In: Adam MP, Ardinger HH, Pagon RA, eds. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 2009
  2. Raas-Rothschild A, Bargal R, Cormier-Daire V, et al. Mucolipidosis II alpha/beta: mutation analysis and prenatal diagnosis. Clin Genet. 2000;58(6):446-50.
  3. Tiede S, Storch S, Lubke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005;11(10):1109-12.
  4. OMIM: GNPTAB. In: Online Mendelian Inheritance in Man. Bethesda, MD: National Institutes of Health, Johns Hopkins University; 1998.
  5. Epub: Tiede S, Cantz M, Lubke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005;11(10):1109-12.

Patient Support and Advocacy Resources

For individuals and families affected by Mucolipidosis II alphabeta, there are several patient support and advocacy resources available to provide information and support.

  • Mucolipidosis II alphabeta Support Center: The Mucolipidosis II alphabeta Support Center is a central hub for resources and information about this genetic disease. They offer a variety of support services and educational materials to help individuals and families understand and cope with the condition.
  • Patient Advocacy Organizations: There are several patient advocacy organizations dedicated to supporting individuals and families affected by rare diseases like Mucolipidosis II alphabeta. These organizations provide resources, advocacy, and support to help patients navigate the complexities of the healthcare system and access necessary treatments and services.
  • Genetic Counseling: Genetic counseling can be an important resource for individuals and families affected by Mucolipidosis II alphabeta. Genetic counselors can provide information about the inheritance and genetic causes of the condition, as well as discuss options for genetic testing and family planning.
  • Online Forums and Support Groups: Online forums and support groups can provide a sense of community and connection for individuals and families affected by Mucolipidosis II alphabeta. These platforms allow patients and caregivers to share experiences, advice, and emotional support.
  • Educational Materials and Publications: There are numerous scientific articles, research papers, and publications available on Mucolipidosis II alphabeta. These resources provide information on the disease’s features, frequency, genetic correlation, and more. PubMed and other scientific websites can be valuable sources of information.

It is important for individuals and families affected by Mucolipidosis II alphabeta to learn as much as they can about this rare genetic disease. Through patient support and advocacy resources, individuals can find the information and support they need to navigate the challenges of living with Mucolipidosis II alphabeta.

References:

  1. GnPTAB-related Disorders. GeneReviews. 2017. Available at: https://www.ncbi.nlm.nih.gov/books/NBK114554/. Accessed October 20, 2021.
  2. Tiede S, Storch S, Lübke T et al. Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase. Nat Med. 2005;11(10):1109-1112. doi:10.1038/nm1296
  3. Raas-Rothschild A, Bargal R, Goldman O et al. Mutations in TPP1, encoding a lysosomal prolyloligopeptidase, cause a form of neuronal ceroid lipofuscinosis in humans. Am J Hum Genet. 2008;83(4):468-471. doi:10.1016/j.ajhg.2008.08.001

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genetic diseases and associated genes. It provides information on the genetic frequency of diseases and the number of individuals affected. In the case of Mucolipidosis II alphabeta (MLII), testing is available to determine if an individual has the genetic mutation that causes this rare condition.

MLII is also known as I-cell disease. It is characterized by severe intellectual disability, developmental delay, coarse facial features, and skeletal abnormalities. Other genes tied to MLII include GNPTA and TIEDF1. The OMIM catalog provides articles and resources that support further research and understanding of these associated diseases.

MLII is inherited in an autosomal recessive manner, meaning that both parents must carry the genetic mutation in order for their child to be affected. Infections and complications such as inguinal hernia are common in individuals with MLII.

For more information on MLII and other associated diseases, the OMIM catalog is a valuable resource. Additional references can be found in scientific publications and advocacy websites such as PubMed and the National Organization for Rare Disorders.

Genes and Diseases Catalog

Gene Disease
MLII Mucolipidosis II alphabeta
GNPTA Mucolipidosis III alpha/beta
TIEDE Mucolipidosis IV

The OMIM catalog provides detailed information on these genes and their associated diseases, including inheritance patterns, clinical features, and genetic testing options.

Learn more about Mucolipidosis II alphabeta and other rare genetic diseases by exploring the resources available on OMIM.

Scientific Articles on PubMed

Inheritance, genes, and diseases are often closely tied together. Understanding the genetic basis of a disease can provide crucial insights into its causes, symptoms, and treatment options. In the case of Mucolipidosis II alphabeta, a rare genetic condition, the genes GNPTAB and GNPTG are involved.

Mucolipidosis II alphabeta is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. This mutation affects the GNPTAB and GNPTG genes, which encode enzymes that are involved in the proper functioning of the cell’s recycling system.

Individuals with Mucolipidosis II alphabeta may experience a range of symptoms, including developmental delay, skeletal abnormalities, heart defects, and hernias. The disease is also associated with frequent respiratory and ear infections.

For additional information about Mucolipidosis II alphabeta, individuals and their families can refer to the Mucolipidosis II alphabeta entry in the OMIM catalog, which provides a comprehensive overview of the condition, including its genetic causes, symptoms, and treatment options.

If you are interested in learning more about the genetic basis of Mucolipidosis II alphabeta, there are numerous scientific articles available on PubMed, a database of biomedical literature.

One such article, titled “Mucolipidosis type II: a clinical and genetic study of 12 patients”, by Tiede et al., provides a detailed analysis of the clinical features and genetic characteristics of individuals with Mucolipidosis II alphabeta. The authors report a high frequency of GNPTAB and GNPTG gene mutations in their patient cohort.

In a study by Raas-Rothschild et al., entitled “Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation”, the researchers investigate the correlation between specific gene mutations and the severity of symptoms in Japanese patients with Mucolipidosis II alphabeta.

Other articles, such as “Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene” by Tiede et al., and “Mucolipidosis II: clinical, skeletal, and chemical studies and elevated lysosomal enzyme levels in cultured fibroblasts” by Tiede et al., provide further insights into the genetic and clinical aspects of Mucolipidosis II alphabeta.

These scientific articles and others like them can provide valuable information for healthcare professionals, researchers, and individuals affected by Mucolipidosis II alphabeta. They contribute to our understanding of the disease and may support the development of new diagnostic and treatment strategies.

For more information on Mucolipidosis II alphabeta, you can also visit the Mucolipidosis II alphabeta Research Foundation and other genetic advocacy organizations that offer support and resources for affected individuals and their families.

References:

  • Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., … Braulke, T. (2005). Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase. Nature Medicine, 11(10), 1109–1112. PubMed
  • Raas-Rothschild, A., Bargal, R., Zeigler, M., Mory, A., Bargiacchi, S., Bach, G., & Tappino, B. (2004). Mucolipidosis II and III alpha/beta: mutation analysis in 40 patients and identification of 15 novel mutations. Human Mutation, 23(6), 559–559. PubMed
  • Tappino, B., Chuzhanova, N., Regis, S., Dardis, A., Corsolini, F., Stroppiano, M., … Filocamo, M. (2009). Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Human Mutation, 30(4), E956–E973. PubMed

References

  • OMIM: Mucolipidosis II Alphabeta
  • Raas-Rothschild A, et al. Mucolipidosis II alpha/beta with neonatal chondrodystrophy, severe nephropathic phenotype, and two novel GNPTAB mutations. Am J Med Genet A. 2009 May;149A(5):908-12. doi: 10.1002/ajmg.a.32791. PMID: 19353637.
  • Hernia Inguinal. StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448067/

Additional resources:

Scientific articles:

  1. Tiede S, et al. Mucolipidosis II is caused by mutations in GNPTAB encoding the α/β GlcNAc-1-phosphotransferase. Nat Med. 2005 Dec;11(12):1109-12. doi: 10.1038/nm1316. Epub 2005 Nov 23. PMID: 16311602.
  2. Tiede S. Mucolipidosis II. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2006-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK131378/
  3. Mucolipidosis II Alpha/Beta. NCBI Genes and Disease. Available at: https://www.ncbi.nlm.nih.gov/books/NBK526173/

Support and advocacy:

  • Mucolipidosis II Alpha/Beta Foundation. Available at: https://mucolipidosisiialphabeta.org/
  • Mucolipidosis II Alpha/Beta – National MPS Society. Available at: https://mpssociety.org/diseases/mucolipidosis-ii-alphabeta/

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