What is Mucopolysaccharidosis?

Key Facts About Mucopolysaccharidosis You Should Know

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. It affects 1.57 per 100,000 live births.

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 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.

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?

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.
• Bone marrow provides healthy donor cells to the body to restore the missing enzymes.
• 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. MPS is an autosomal recessive condition; prevention is not possible. Early diagnosis, family support, and proper monitoring and treatment can improve lives.

People are becoming more aware of this rare condition. With researchers finding better treatments, the prospects of the people with MPS are looking up.

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