Mucopolysaccharidosis: Causes, Symptoms and Treatment

What is Mucopolysaccharidosis?

Mucopolysaccharidosis (MPS) is an ultra-rare genetic disorder that affects every system in the human body. There are seven types of mucopolysaccharidosis presenting unique physical symptoms. 

Babies with MPS appear normal at birth; symptoms become noticeable when they are around 1 or 2 years old. MPS is highly uncommon. The combined incidence of all types of MPS is estimated to range from 1 in 25,000 to 1 in 100,000 live births, depending on population and region. 

While rare, learning about MPS can create awareness. Keep reading this article to understand what mucopolysaccharidosis (MPS) is, what causes it, and how it can be managed. 

What is mucopolysaccharidosis (MPS)? 

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder. In people with MPS, a specific lysosomal enzyme required to break down glycosaminoglycans (GAGs), formerly mucopolysaccharides, does not work effectively. GAGs are complex sugar molecules essential in building connective tissues. 

Since the sugar molecules don't break down completely, they accumulate in cells, tissues, and organs, causing progressive internal damage. 

What happens in Mucopolysaccharidosis? 

• Enzyme Deficiency: The underlying cause is a deficiency of specific lysosomal enzymes needed to degrade glycosaminoglycans (GAGs). 
• GAG Accumulation: Without these functional enzymes, GAGs accumulate within the lysosomes, which are the recycling centersof cells. 
• Cellular Damage: This accumulation causes the lysosomes to swell, disrupting normal cellular function and leading to progressive damage in tissues and organs throughout the body. 

What are the Symptoms of MPS? 

There are different types of MPS. Besides their distinct signs, the common symptoms include: 

• Skeletal irregularities like abnormal bone size(dysplasia). 
• Short stature or dwarfism 
• Heavily-rounded (coarsened) facial features like thick lips, enlarged tongue, and flat nasal bridge. 
• Overgrown liver or spleen. 
• Carpal tunnel syndrome. 
• Heart and respiratory issues. 
• Stiff joints. 
• Respiratory problem such as recurring pneumonia and airway issues 
• Sensory impairments including vision problems like cloudy corneas and loss of hearing frequently 

Besides these, affected people may also suffer from low intellect or intellectual disability. Some also show behavioral problems like depression, hyperactivity, or speech impairment. 

What are the different types of MPS? 

Who is more likely to get mucopolysaccharidoses? 

Most types of Mucopolysaccharidosis (MPS I, III, IV, VI, VII) are rare autosomal recessive disorders, meaning a child must inherit two defective copies of the gene (one from each parent) to be affected. However, MPS II (Hunter syndrome) is an X-linked recessive disorder, which primarily affects males. 

In general, the below-mentioned factors may increase the chance of having or passing on a genetic disorder: 

• A family history of a genetic disorder 
• Parents who are closely related (consanguineous), or who belong to certain ethnic groups or geographically isolated communities where specific MPS gene mutations are more common. 
• Parents who are asymptomatic carriers of a single defective gene associated with the disorder. 

What are the treatments for MPS? 

There is no cure for mucopolysaccharidosis (MPS). Regular monitoring and treatment can improve the lives of the patients. The treatments vary concerning the associated physical conditions. 

• Enzyme Replacement Therapy (ERT) for regular infusions for missing enzymes. 
• Hematopoietic stem cell transplantation (HSCT) provides donor‑derived cells capable of producing the deficient enzyme and is an established treatment for severe MPS I when performed early. 
• Stem-cell transplantation is the primary course of treatment in severe cases of MPS I. 
• Surgeries can be performed depending on the symptoms. For example: corneal transplants among people with vision issues. 

Early diagnosis is crucial for managing MPS. Clinical evaluations, urine tests for GAGs, enzyme monitoring, and genetic testing are some ways to diagnose MPS. 

Mucopolysaccharidosis is a rare and complex condition. While MPS cannot be prevented after conception, genetic counselling, carrier testing, and prenatal diagnosis can help families understand and manage recurrence risk. Early diagnosis, family support, and proper monitoring and treatment can improve lives. 

Reader information: This article is intended for general informational and educational purposes only. It does not constitute medical advice, diagnosis, or treatment. Mucopolysaccharidosis (MPS) is a complex group of rare genetic disorders, and symptoms, severity, and treatment options can vary widely depending on the type and individual patient. Readers should not rely on this information as a substitute for professional medical care. Always seek the advice of a qualified healthcare professional, genetic specialist, or metabolic disease expert for diagnosis, treatment decisions, and personalized medical guidance. Advances in research and treatment may change current understanding and management approaches over time. 

Also Read:

→ What is Hailey and Hailey Disease

→ What is a Dandy-Walker Malformation Associated With

→ What is the life expectancy of someone with HGPS

→ What Type of Disease is Bronchiectasis

→ Can a Baby Survive Without a Cerebellum