Expert Reviewed By: Dr. Brandon Colby MD
Mevalonic aciduria is a rare, genetic metabolic disorder that can have severe consequences for affected individuals. Understanding, diagnosing, and using genetic testing for this disease is crucial in providing the best possible care to those affected. In this article, we will explore the clinical and genetic features of Mevalonic aciduria, as well as the benefits of genetic testing in diagnosing and managing this disorder.
Understanding Mevalonic Aciduria
Mevalonic aciduria is caused by a deficiency in the enzyme mevalonate kinase, which plays a crucial role in the synthesis of cholesterol and other essential molecules in the body. This deficiency leads to a buildup of mevalonic acid in the blood and urine, which can result in a wide range of symptoms, including developmental delay, recurrent fever, and inflammation of various organs (1). The severity of the disease can vary greatly between individuals, making it difficult to diagnose and manage.
Diagnosing Mevalonic Aciduria
Diagnosing Mevalonic aciduria can be challenging due to the wide range of symptoms and varying severity of the disease. However, genetic testing has proven to be an invaluable tool in accurately diagnosing this disorder. By examining the MVK gene, which encodes the mevalonate kinase enzyme, researchers have been able to identify specific genetic mutations that cause Mevalonic aciduria (2). This has led to more accurate diagnoses and improved understanding of the disease's clinical and genetic features.
Benefits of Genetic Testing for Mevalonic Aciduria
There are several benefits to using genetic testing for the diagnosis and management of Mevalonic aciduria:
- Accurate diagnosis: Genetic testing can identify the specific mutations in the MVK gene responsible for causing Mevalonic aciduria, leading to a more accurate diagnosis of the disease (3).
- Understanding disease progression: Identifying the specific genetic mutations responsible for Mevalonic aciduria can help researchers better understand the disease's progression and the factors that influence its severity (3).
- Improved treatment options: Genetic testing can help inform treatment decisions by identifying the specific mutations responsible for Mevalonic aciduria and guiding the selection of appropriate therapies. For example, in one case report, a patient with Mevalonic aciduria was successfully treated with canakinumab, an IL-1 blockade (4).
- Family planning: Genetic testing can provide valuable information for family planning, allowing couples who may be carriers of the MVK gene mutations to make informed decisions about having children.
Conclusion
Mevalonic aciduria is a complex and challenging disease to diagnose and manage. However, advances in genetic testing have provided valuable insights into the clinical and genetic features of this disorder, leading to more accurate diagnoses and improved treatment options. By continuing to explore the genetic underpinnings of Mevalonic aciduria, we can better understand this disease and work towards providing the best possible care for those affected.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)