Expert Reviewed By: Dr. Brandon Colby MD
Understanding Mucopolysaccharidosis Type VI
Mucopolysaccharidosis Type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disease caused by a deficiency of the enzyme arylsulfatase B. This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs) in the body. When there is a deficiency of arylsulfatase B, GAGs accumulate in various tissues and organs, leading to a wide range of symptoms and complications. MPS VI is a progressive disease, and its severity can vary greatly among individuals [1].
Diagnosing Mucopolysaccharidosis Type VI
Diagnosing MPS VI can be challenging due to the wide range of symptoms and their varying severity. Some common symptoms include short stature, joint stiffness, skeletal abnormalities, heart valve problems, and vision loss due to corneal opacity. In addition to these symptoms, a definitive diagnosis of MPS VI requires laboratory tests to measure the level of arylsulfatase B enzyme activity in the blood or other body fluids [1].
Role of Genetic Testing in Diagnosing MPS VI
Genetic testing plays a crucial role in confirming the diagnosis of MPS VI. This testing involves analyzing the patient's DNA to identify mutations in the ARSB gene, which is responsible for producing the arylsulfatase B enzyme. Identifying these mutations can help confirm the diagnosis and provide valuable information for family planning and genetic counseling [3].
Treatment Options for Mucopolysaccharidosis Type VI
While there is currently no cure for MPS VI, several treatment options can help manage symptoms and improve the quality of life for affected individuals. These treatments aim to alleviate symptoms, slow disease progression, and improve overall function [1].
Enzyme Replacement Therapy (ERT)
One of the primary treatments for MPS VI is enzyme replacement therapy (ERT) with galsulfase, a recombinant form of the arylsulfatase B enzyme. ERT involves regular infusions of galsulfase, which can help break down GAGs and reduce their accumulation in the body. Studies have shown that ERT with galsulfase can improve endurance, joint mobility, and respiratory function in individuals with MPS VI [2].
Hematopoietic Stem Cell Transplantation (HSCT)
Another treatment option for MPS VI is hematopoietic stem cell transplantation (HSCT), which involves transplanting healthy stem cells from a donor into the affected individual. These healthy stem cells can then produce the arylsulfatase B enzyme, helping to break down GAGs and slow disease progression. HSCT has been shown to improve the quality of life and limit disease progression in some individuals with MPS VI, although it may not be suitable for all patients [4].
The Future of Mucopolysaccharidosis Type VI Research
Research into MPS VI is ongoing, with scientists working to better understand the disease and develop new treatments. Recent preclinical studies have investigated potential biomarkers for MPS VI, which could help improve diagnosis and monitoring of the disease. Additionally, new therapeutic approaches, such as gene therapy and small molecule therapy, are being explored as potential treatments for MPS VI [1].
In conclusion, mucopolysaccharidosis Type VI is a rare genetic disease with a wide range of symptoms and varying severity. Genetic testing plays a crucial role in diagnosing the disease and guiding treatment decisions. While there is currently no cure for MPS VI, treatments such as enzyme replacement therapy and hematopoietic stem cell transplantation can help manage symptoms and improve the quality of life for affected individuals.
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)