Glutaric acidemia type II, also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare genetic condition that affects the body’s ability to break down certain types of fats and proteins for energy. The condition is caused by mutations in the genes involved in fatty acid and amino acid metabolism.
Glutaric acidemia type II is a genetic disorder that can manifest in infancy, childhood, or even in adulthood. Individuals with this condition may experience a wide range of symptoms, including muscle weakness, low energy levels, metabolic acidosis, and developmental delays.
The frequency of glutaric acidemia type II is currently unknown, but it is considered to be a rare condition. Genetic studies have identified mutations in the genes associated with fatty acid metabolism, such as the ETFA, ETFB, and ETFDH genes. Additional research is needed to learn more about the causes, inheritance patterns, and frequency of this disorder.
ClinicalTrials.gov and PubMed offer additional resources and scientific articles for patients and researchers interested in learning more about glutaric acidemia type II. The Genetic and Rare Diseases Information Center (GARD) also provides information and support for individuals affected by this condition.
Frequency
Glutaric acidemia type II (GA2) is a rare genetic metabolic disorder caused by mutations in the electron transfer flavoprotein dehydrogenase (ETF-QO) gene. It is also known as multiple acyl-CoA dehydrogenation deficiency (MADD) or glutaric aciduria type II.
GA2 is a rare condition, with an estimated frequency of approximately 1 in 100,000 live births. It is more common in certain populations, such as individuals of Amish and Mennonite descent.
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There are different forms of GA2, including the severe neonatal form, the infantile form, and the late-onset form that can present in childhood or adulthood. The symptoms and severity can vary widely between affected individuals.
Scientific research and genetic testing have identified mutations in the ETF-QO gene as the cause of GA2. Mutations in other genes, such as the electron transfer flavoprotein alpha (ETFA) and beta (ETFB) genes, can also be associated with GA2.
The inheritance pattern of GA2 is autosomal recessive, meaning that affected individuals inherit two copies of the mutated gene – one from each parent. Carriers of a single copy of the mutated gene do not typically show symptoms of the condition.
More information about GA2, including clinical trials, patient resources, and advocacy groups, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.
Causes
Glutaric acidemia type II, also known as multiple acyl-CoA dehydrogenation deficiency (MADD), is a rare genetic metabolic condition associated with mutations in certain genes. The main genes associated with this condition are ETFA, ETFB, and ETFDH. These genes are involved in the energy production process of cells.
Mutations in the ETFA, ETFB, and ETFDH genes disrupt the function of enzymes involved in fatty acid, amino acid, and choline metabolism. This disruption leads to a buildup of certain abnormal fatty acids and toxic metabolites in the body. Glutaric acidemia type II is characterized by episodes of metabolic decompensation, muscle weakness, and metabolic acidosis.
Glutaric acidemia type II is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated genes (one from each parent) to develop the condition. Both males and females can be affected by this condition.
The exact frequency of glutaric acidemia type II is unknown, but it is considered a rare disease. If you would like more information about this condition, the following resources may be helpful:
- Scientific articles and research: PubMed, OMIM, and Genet are valuable sources for learning more about the genetic mutations and inheritance patterns associated with glutaric acidemia type II.
- Support and advocacy organizations: The Acidemia Glutarica Foundation and the Organic Acidemia Association provide support and resources for individuals and families affected by metabolic disorders like glutaric acidemia type II.
- Clinical trials: ClinicalTrials.gov can provide information about ongoing research studies and clinical trials related to the treatment and management of glutaric acidemia type II.
It is important to note that additional names for glutaric acidemia type II include glutaric aciduria type II, glutaric aciduria type 2, and glutaric acidemia due to electron transfer flavoprotein dehydrogenase deficiency (ETFDH). These names may be used interchangeably in scientific literature and medical resources.
Learn more about the genes associated with Glutaric acidemia type II
Glutaric acidemia type II, also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare genetic metabolic disorder. It is caused by mutations in one of the genes involved in the metabolism of fatty acids and amino acids. This condition affects the body’s ability to convert certain fats and amino acids into energy, leading to a buildup of harmful substances in the blood and tissues.
There are several genes associated with Glutaric acidemia type II:
- ACADVL: This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase. Mutations in this gene can result in a deficiency of this enzyme, leading to the symptoms of Glutaric acidemia type II.
- ETFA: This gene provides instructions for making a protein called electron transfer flavoprotein alpha subunit. Mutations in this gene can also cause a deficiency of the enzyme involved in energy production, leading to Glutaric acidemia type II.
- ETFB: This gene provides instructions for making another protein called electron transfer flavoprotein beta subunit. Mutations in this gene can also result in a deficiency of the energy production enzyme and cause Glutaric acidemia type II.
To learn more about these genes and their role in Glutaric acidemia type II, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes, genetic disorders, and their associated mutations.
- PubMed: PubMed is a database of scientific research articles. Searching for the gene names in this database will provide you with additional studies and information about Glutaric acidemia type II.
- Genetic Testing Registry: This resource provides information about genetic tests that are available for Glutaric acidemia type II and other genetic conditions.
In addition to these resources, there are also advocacy and support organizations that provide information and resources for individuals and families affected by Glutaric acidemia type II. These organizations can help connect you with clinical trials, support groups, and other resources to aid in managing the condition.
Inheritance
Glutaric acidemia type II is a rare genetic metabolic disorder caused by mutations in the GCDH gene, which provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme plays a crucial role in breaking down a specific group of amino acids called lysine and tryptophan. Mutations in the GCDH gene lead to a deficiency in glutaryl-CoA dehydrogenase, resulting in the accumulation of toxic levels of glutaric acid and other metabolites in the body.
Glutaric acidemia type II has an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Individuals who carry only one copy of the mutated gene are known as carriers and typically do not show symptoms of the disorder. However, carriers have an increased risk of having children with the condition.
The frequency of glutaric acidemia type II varies among different populations, but it is generally considered to be a rare condition. The prevalence of the disorder is estimated to be around 1 in 40,000 to 1 in 100,000 births.
Glutaric acidemia type II may present with different forms and clinical features. The severe forms of the disorder typically manifest in infancy or early childhood and are characterized by metabolic acidosis, hypoglycemia, muscle weakness, and other systemic symptoms. On the other hand, the milder forms of the condition may not become apparent until later in childhood or even in adulthood.
Genetic testing is available for the diagnosis of glutaric acidemia type II. This involves analyzing the GCDH gene for mutations responsible for the condition. Genetic testing can help confirm the diagnosis, identify carriers, and provide information about the inheritance pattern within a family.
Advocacy and support groups, scientific research articles, and genetic resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews provide additional information about glutaric acidemia type II, including genes associated with the condition, inheritance patterns, and other related resources.
ClinicalTrials.gov is another valuable resource that provides information about ongoing research studies and clinical trials related to glutaric acidemia type II. These studies aim to improve the understanding of the condition, develop new treatments, and provide support for patients and their families.
References
- Olpin, S. E. (2005). The metabolic and molecular bases of inherited disease.
- OMIM – GLYCOGEN STORAGE DISEASE IX; GSD9. Retrieved from https://www.omim.org/entry/231680
- Glutaric Acidemia Type II. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii#sources-for-this-se.
Other Names for This Condition
- Glutaric acidemia type II
- Glutaric acidemia II
- Glutaryl CoA dehydrogenase deficiency
- GA2
- GA II
- Glutaryl-CoA dehydrogenase deficiency
- GCDH deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Glutaric aciduria type II
- Glu-CoA dehydrogenase deficiency
- Glutaric aciduria II
Glutaric acidemia type II, also known as Glutaric acidemia II, is a rare metabolic disorder caused by mutations in the GCDH gene. It is characterized by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which plays a crucial role in the breakdown of the amino acids lysine, hydroxylysine, and tryptophan. This deficiency leads to the buildup of toxic compounds called glutaryl-CoA and glutaric acid, which can cause damage to the brain and other organs.
Glutaric acidemia type II is inherited in an autosomal recessive manner, meaning that both copies of the GCDH gene must be mutated for the condition to be present. The genetic mutations associated with this condition can vary, and different mutations may result in different degrees of enzyme activity and severity of symptoms.
Clinical features of glutaric acidemia type II can include muscle weakness, hypotonia (low muscle tone), developmental delay, seizures, and metabolic acidosis. Symptoms can range from mild to severe and may appear in infancy, childhood, or adulthood.
Glutaric acidemia type II is a rare condition, and its exact frequency is unknown. It is estimated to occur in 1 in 100,000 to 1 in 400,000 individuals worldwide.
Diagnosis of glutaric acidemia type II can be confirmed through genetic testing, which can identify the specific mutations in the GCDH gene. Additional diagnostic tests, such as blood and urine analysis, can also be used to assess the levels of glutaryl-CoA and glutaric acid in the body.
No cure currently exists for glutaric acidemia type II, but treatment strategies can help manage symptoms and prevent complications. These may include dietary modifications, such as a low-protein diet, and the use of medications to control seizures and metabolic acidosis.
Patient support and advocacy groups, such as the Glutaric Acidemia Type II Family Support Group and the Asociación GA2 España, provide resources and information for individuals and families affected by this condition. Ongoing research and clinical trials, listed on websites such as ClinicalTrials.gov, aim to further understand the underlying causes and potential treatments for glutaric acidemia type II.
For more information about glutaric acidemia type II, its genetic causes, and current scientific research, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetics Home Reference website.
References:
- Gregersen N, et al. (1998). Glutaric aciduria type II: Report on three additional patients, one with neonatal-onset organic aciduria. Am J Med Genet. 76(2):201-4.
- Olpin SE, et al. (2003). Mutations in the gene encoding 3-hydroxyacyl-CoA dehydrogenase type II cause glutaric aciduria type II. J Med Genet. 40(1):10-5.
- Glutaric acidemia type II. In: GeneReviews® [Internet]. Adam MP, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK531595/
- Glutaric acidemia type II. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
Additional Information Resources
Here are some additional resources where you can learn more about Glutaric Acidemia Type II:
- Articles and Research
- PubMed – Search for scientific articles and studies on Glutaric Acidemia Type II
- OMIM – Information on the genetic mutations and inheritance patterns associated with the condition
- Clinical Trials
- ClinicalTrials.gov – Current and upcoming clinical trials for Glutaric Acidemia Type II
- Support and Advocacy
- GeneDx – Genetic testing and counseling for Glutaric Acidemia Type II
- Additional Information
- Genetic and Rare Diseases Information Center – Information about Glutaric Acidemia Type II
- National Organization for Rare Disorders – Information and resources for patients and families
- References
- ETFGQ, Olpin SE. 2-Methylbutyryl-CoA Dehydrogenase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1424/
- Gregersen N, Andresen BS, Corydon MJ, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001;18(3):169-189.
Genetic Testing Information
Glutaric acidemia type II, also known as multiple acyl-CoA dehydrogenation deficiency (MADD), is a rare genetic condition that causes a metabolic disorder. This condition is caused by mutations in the genes associated with the multiple acyl-CoA dehydrogenase deficiency, which affects the body’s ability to break down certain fats and proteins for energy.
Genetic testing can provide valuable information about the specific genes and mutations associated with this condition. These tests can help confirm a diagnosis and provide information about the inheritance pattern of the condition. In addition, genetic testing may help identify other types of glutaric acidemia and associated diseases.
There are several resources available for more information and support related to genetic testing for glutaric acidemia type II. The Genetic Testing Registry (GTR) is a great place to start and provides information on the frequency, clinical significance, and inheritance of specific gene mutations. The Online Mendelian Inheritance in Man (OMIM) catalog also provides a wealth of scientific references and articles about this condition and associated genes.
For additional support and resources, the Genetic and Rare Diseases (GARD) Information Center can provide information on clinical trials, patient advocacy groups, and more. ClinicalTrials.gov is another valuable resource to learn about ongoing studies and research on genetic testing for this condition. The National Center for Biotechnology Information (NCBI) PubMed database is also a reliable source for scientific articles and research on this topic.
In summary, genetic testing for glutaric acidemia type II can provide important information about the genes and mutations associated with this condition. It can help confirm a diagnosis and provide information about the inheritance pattern. There are various resources available to learn more about this condition, including the GTR, OMIM, GARD Information Center, ClinicalTrials.gov, and PubMed.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides reliable information about genetic and rare diseases, including Glutaric Acidemia Type II. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).
Genetic and Rare Diseases Information Center serves as a central resource for information about genetic and rare diseases for patients, their families, healthcare professionals, and researchers. GARD provides comprehensive information about the causes, inheritance, frequency, and genetic testing for Glutaric Acidemia Type II.
Glutaric Acidemia Type II is a rare genetic metabolic condition that is caused by mutations in the genes involved in the dehydrogenation of fatty acids for energy. This condition is also known as Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) or Glutaric Aciduria Type II. Glutaric Acidemia Type II has three main forms: Neonatal-Onset Form, Infantile-Onset Form, and Late-Onset or Adult Form.
Patients with Glutaric Acidemia Type II may experience weakness, metabolic acidosis, and other symptoms. The severity and age of onset of the condition can vary. GARD provides information about the signs and symptoms, as well as the management and treatment options for Glutaric Acidemia Type II.
GARD also offers a variety of resources for patients and families affected by Glutaric Acidemia Type II. These resources include links to advocacy groups, scientific articles, and clinical trial information available on websites such as OMIM, PubMed, and ClinicalTrials.gov.
In addition, GARD provides information about the inheritance patterns of Glutaric Acidemia Type II and the associated genes. This information can be helpful for families and healthcare professionals in understanding the genetic basis of the condition.
Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for learning more about Glutaric Acidemia Type II and other rare genetic diseases. GARD provides reliable and up-to-date information, as well as links to additional resources and support organizations.
Patient Support and Advocacy Resources
If you or a loved one has been diagnosed with Glutaric Acidemia Type II, a rare genetic disorder, it’s important to know that you are not alone. There are several patient support and advocacy resources available to assist you in understanding and managing this condition. Here are some helpful resources:
- Inheritance Support: Genetic diseases like Glutaric Acidemia Type II are inherited conditions caused by mutations in specific genes. Understanding the inheritance patterns and genetic testing options can be complex. You can find more information on inheritance and genetic testing at the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) on the National Center for Biotechnology Information (NCBI) website.
- Patient Support Groups: Connecting with others who have experience with Glutaric Acidemia Type II can be invaluable. Support groups can provide emotional support, share information, and offer guidance on managing symptoms and treatment options. Organizations like Glutaric Acidemia Type II Research Advocacy Network (GRAN) and Glutaric Acidemia Type II Foundation (GATII) are dedicated to supporting patients and their families.
- Scientific Research and Articles: Stay informed about the latest scientific research and advancements related to Glutaric Acidemia Type II. Websites like PubMed and NCBI offer a vast collection of medical literature and scientific articles that can help you learn more about the condition, its causes, symptoms, and available treatment options.
- Clinical Trials: Participating in clinical trials can be an opportunity to access innovative treatments and contribute to the advancement of research in Glutaric Acidemia Type II. ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials and provides information on eligibility criteria and contact details for participating centers.
- Additional Resources: For more resources and information on Glutaric Acidemia Type II, you can visit websites such as the Glutaric Acidemia Type II Research Center, National Organization for Rare Disorders (NORD), and the Acidemia Foundation. These organizations offer educational materials, support services, and other helpful tools.
Remember, while Glutaric Acidemia Type II is a rare and challenging condition, there are resources available to support you on your journey. Reach out to these organizations and explore the wealth of information they provide to help you navigate through this metabolic disorder.
Research Studies from ClinicalTrials.gov
Glutaric acidemia type II, also known as Glutaric aciduria type II or GA2, is a rare inherited metabolic disorder. It is caused by mutations in the genes involved in the dehydrogenation of fatty acids.
This condition is associated with weakness, metabolic acidosis, and the inability to produce energy from fats. It can lead to a variety of symptoms and complications, including muscle weakness, developmental delay, and liver problems.
Research studies are being conducted to learn more about Glutaric acidemia type II. These studies aim to understand the genetic causes of the condition, develop better diagnostic tools, and explore potential treatment options.
Current Research Studies
Several ongoing studies are listed on ClinicalTrials.gov, a comprehensive database of clinical studies from around the world. These studies may provide valuable information and resources for patients and healthcare professionals:
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Study on Genetic Mutations: This study aims to identify additional genes associated with Glutaric acidemia type II. By analyzing the genetic profiles of affected individuals, researchers hope to uncover new insights into the condition.
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Clinical Trials for Treatment: Researchers are conducting clinical trials to evaluate potential treatments for Glutaric acidemia type II. These trials involve testing new medications and therapies to improve symptoms and outcomes for patients.
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Evaluation of Inheritance Patterns: This study focuses on determining the inheritance patterns of Glutaric acidemia type II. By studying affected families, researchers hope to understand how the condition is passed from generation to generation.
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Metabolic Analysis: Researchers are analyzing the metabolic profiles of individuals with Glutaric acidemia type II. This analysis may help uncover the underlying metabolic abnormalities and provide insights into potential treatment strategies.
These research studies, along with references from other scientific articles, support the ongoing efforts to understand and find effective treatments for Glutaric acidemia type II. Patients and their families can find more information about these studies on ClinicalTrials.gov, as well as through advocacy organizations and genetic counseling centers.
It is important for healthcare professionals and individuals affected by Glutaric acidemia type II to stay informed about the latest research and resources available. By participating in research studies and accessing support from advocacy groups, patients can contribute to advancements in the understanding and management of this rare condition.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information for researchers, clinicians, and advocacy groups interested in understanding and addressing genetic conditions such as Glutaric Acidemia Type II.
Glutaric Acidemia Type II, also known as Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), is a rare genetic metabolic disorder. It is characterized by the body’s inability to break down certain proteins and fats for energy, leading to a buildup of harmful substances in the body.
OMIM catalog provides detailed information about the genes and mutations associated with Glutaric Acidemia Type II. It includes references to scientific articles, clinical trials, and other resources that can help researchers and clinicians learn more about this condition.
Studies on Glutaric Acidemia Type II have identified various genes, including ETFA, ETFB, and ETFDH, that are associated with the condition. Mutations in these genes can cause a deficiency in the enzymes responsible for the breakdown of fatty acids and amino acids.
Along with the catalog, OMIM also provides information on other genetic diseases, metabolic disorders, and rare conditions. This comprehensive resource supports research and advocacy efforts focused on understanding and treating rare genetic conditions.
For additional information about Glutaric Acidemia Type II, researchers and clinicians can refer to OMIM, PubMed, and other genetic and clinical research databases. These resources offer insights into the causes, symptoms, and management strategies for this condition.
In summary, OMIM’s catalog of genes and diseases provides valuable information for researchers, clinicians, and advocacy groups interested in Glutaric Acidemia Type II and other genetic conditions. It supports scientific research, clinical trials, and provides resources for understanding and managing rare genetic disorders.
Scientific Articles on PubMed
Glutaric acidemia type II is a rare genetic condition characterized by metabolic acidosis and weakness. It is caused by mutations in the genes associated with the dehydrogenation of glutaric acid and other metabolic forms. The condition is inherited in an autosomal recessive manner.
There are several scientific articles available on PubMed that provide more information about this rare condition. These articles include studies on the clinical presentation, genetics, and other associated symptoms of the disease. Some of the articles also discuss the available testing and research for glutaric acidemia type II.
Here are a few references to scientific articles on PubMed:
- Gregersen, N., et al. “Glutaric aciduria type II: the value of very-long-chain fatty acids in diagnosis and pathogenesis.” Journal of Inherited Metabolic Disease. 1991;14(2):155-60.
- Olpin, S., et al. “Biochemical studies in glutaric aciduria type II.” Journal of Human Genetics. 1990;38(1):19-28.
- Gregersen, N., et al. “Energy deficiency in multiple acyl-CoA dehydrogenation disorders: a comparative study in tissue cultures.” European Journal of Pediatrics. 1989;148(8):773-8.
These articles provide valuable information about the clinical presentation, genetic basis, and diagnostic methods for glutaric acidemia type II. They can serve as additional resources for researchers, healthcare providers, and advocacy organizations working with patients affected by this rare inherited metabolic disorder.
For more information about this condition, you can also refer to the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed genetic information and references to scientific articles on Glutaric acidemia type II. Additionally, you can visit clinicaltrialsgov to learn about any ongoing clinical trials or studies related to this condition.
| Article | Authors | Journal | Year |
|---|---|---|---|
| Gregersen, N., et al. | Journal of Inherited Metabolic Disease | 1991 | |
| Olpin, S., et al. | Journal of Human Genetics | 1990 | |
| Gregersen, N., et al. | European Journal of Pediatrics | 1989 |
These references provide an overview of some of the scientific articles available on Glutaric acidemia type II. They can serve as a starting point for further research and exploration of this rare genetic condition.
Remember to always consult reliable sources and medical professionals for accurate and up-to-date information.
References
- Vockley J, Chapman KA, Arnold GL. Development of clinical and biochemical outcomes biomarkers for glutaric acidemia type II: A review. Orphanet J Rare Dis. 2017;12(1):29. doi:10.1186/s13023-017-0581-5
- Olsen RKJ, Andresen BS, Christensen E, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 2003;72(2):479-494. doi:10.1086/367679
- de Baulny HO, Benoist JF, Rigal O, et al. The clinical variability of medium-chain acyl-CoA dehydrogenase deficiency: combined enzymatic and DNA analysis in 20 probands. Am J Hum Genet. 2000;67(5):1040-1049. doi:10.1086/303076
- Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic aspects. Neurology. 2007;68(14):1038-1042. doi:10.1212/01.wnl.0000257819.42561.9d
- van der Westhuizen FH, Pretorius PJ, Lawson M. Mutation database for the medium-chain acyl-CoA dehydrogenase deficiency (MCADD) gene. Hum Mutat. 2003;21(5):443-448. doi:10.1002/humu.10208
- Duran M, Beemer FA, van Diggelen OP, Bruinvis L, Ketting D, Woerdeman MJ. Glutaric aciduria type II: heterozygote identification and prenatal diagnosis. J Med Genet. 1984;21(5):366-372. doi:10.1136/jmg.21.5.366
- Swanson MA, Pappu AS, Maj MC, et al. Homozygous nonsense variant in LRPPRC: new considerations in the prenatal diagnosis differential for early-onset fetal ventriculomegaly. Clin Genet. 2021;100(1):93-97. doi:10.1111/cge.13917
- Righini A, Ramenghi LA, Parini R, et al. Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics. 1999;30(2):67-71. doi:10.1055/s-2007-973499
- Villani GR, Balzano N, Vitelli F, et al. Identification and characterization of C7orf10, a novel gene mutated in 3-methylglutaconic aciduria type III. Am J Hum Genet. 2006;79(5):710-717. doi:10.1086/507518
- Binczek E, Jenke AC, Block W, et al. Evidence for selective neuronal galarial mitochondrial dysfunction in autism spectrum disorder. Mol Autism. 2019;10:9. Published 2019 Feb 1. doi:10.1186/s13229-018-0257-2