Mucopolysaccharidoses: Symptoms and Treatments

Mucopolysaccharidoses (MPS) are a group of rare genetic disorders caused by the body's inability to break down long chains of sugar molecules called glycosaminoglycans (GAGs). These disorders can lead to a range of symptoms and complications, affecting various parts of the body.

What are Mucopolysaccharidoses?

Mucopolysaccharidoses are metabolic disorders that occur when the body lacks specific enzymes needed to break down GAGs. These sugar molecules build up in cells, blood, and connective tissues, causing damage over time. MPS disorders are typically inherited in an autosomal recessive manner, meaning both parents must carry the defective gene for a child to be affected.

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Types of Mucopolysaccharidoses

There are several types of MPS, each caused by a deficiency in a different enzyme. The main types include:

MPS I (Hurler, Scheie, and Hurler-Scheie syndromes)
MPS II (Hunter syndrome)
MPS III (Sanfilippo syndrome)
MPS IV (Morquio syndrome)
MPS VI (Maroteaux-Lamy syndrome)
MPS VII (Sly syndrome)

Each type varies in severity and symptoms, but all involve the accumulation of GAGs in tissues.

Causes of Mucopolysaccharidoses

MPS disorders are caused by mutations in genes that code for enzymes responsible for breaking down GAGs. When these enzymes are missing or not functioning properly, GAGs accumulate in cells, leading to the symptoms and complications associated with MPS.

Genetic Inheritance

Most MPS types are inherited in an autosomal recessive manner. This means that a child must inherit two copies of the defective gene, one from each parent, to develop the disorder. MPS II (Hunter syndrome) is an exception, as it is inherited in an X-linked recessive manner, primarily affecting males.

Symptoms of Mucopolysaccharidoses

The symptoms of MPS can vary widely depending on the type and severity of the disorder. Common symptoms include:

Skeletal abnormalities: Joint stiffness, short stature, and abnormal bone growth.
Organ enlargement: Enlarged liver and spleen (hepatosplenomegaly).
Facial features: Coarse facial features, including a broad nose, thick lips, and an enlarged tongue.
Respiratory issues: Frequent respiratory infections and difficulty breathing.
Vision and hearing problems: Cloudy corneas, vision loss, and hearing loss.
Developmental delays: Delayed growth and development, intellectual disability, and behavioral issues.

Complications of Mucopolysaccharidoses

MPS can lead to various complications, including:

Heart problems: Heart valve abnormalities and cardiomyopathy.
Neurological issues: Seizures, hydrocephalus, and spinal cord compression.
Joint problems: Limited joint mobility and arthritis.
Gastrointestinal issues: Hernias and chronic diarrhea.

Diagnosing Mucopolysaccharidoses

Diagnosing MPS involves a combination of clinical evaluation, laboratory tests, and genetic testing. Early diagnosis is crucial for managing the disorder and improving the quality of life for affected individuals.

Clinical Evaluation

A healthcare provider will conduct a thorough physical examination and review the patient's medical history. They will look for characteristic signs and symptoms of MPS, such as skeletal abnormalities, organ enlargement, and facial features.

Laboratory Tests

Laboratory tests can help confirm the diagnosis of MPS. These tests may include:

Urine tests: Measuring the levels of GAGs in the urine.
Blood tests: Checking for enzyme activity levels.
Imaging studies: X-rays, MRI, and CT scans to assess skeletal and organ abnormalities.

Genetic Testing

Genetic testing can identify specific gene mutations associated with MPS. This can help confirm the diagnosis and determine the type of MPS. Prenatal testing is also available for families with a known history of MPS.

Treatment and Management of Mucopolysaccharidoses

While there is no cure for MPS, various treatments can help manage symptoms and improve the quality of life for affected individuals. Treatment options may include:

Enzyme Replacement Therapy (ERT)

ERT involves replacing the missing or deficient enzyme with a synthetic version. This treatment can help reduce the buildup of GAGs in tissues and alleviate some symptoms. ERT is available for MPS I, II, and VI.

Hematopoietic Stem Cell Transplantation (HSCT)

HSCT, also known as bone marrow transplant, involves transplanting healthy stem cells from a donor to the affected individual. This can help restore enzyme activity and slow the progression of the disorder. HSCT is primarily used for severe cases of MPS I.

Symptomatic Treatment

Symptomatic treatment focuses on managing specific symptoms and complications of MPS. This may include:

Surgical interventions: Correcting skeletal abnormalities, heart valve issues, and hernias.
Respiratory support: Treating respiratory infections and using breathing aids.
Physical therapy: Improving joint mobility and muscle strength.
Medications: Managing pain, seizures, and other symptoms.

Supportive Care

Supportive care is essential for individuals with MPS and their families. This may include:

Educational support: Special education services and individualized education plans (IEPs).
Social support: Connecting with support groups and counseling services.
Nutritional support: Ensuring a balanced diet and managing gastrointestinal issues.

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Managing Mucopolysaccharidoses

Managing MPS requires a multidisciplinary approach involving various healthcare professionals, including geneticists, pediatricians, neurologists, cardiologists, and physical therapists. Regular monitoring and follow-up care are essential to address the evolving needs of individuals with MPS.

Lifestyle and Home Remedies

While medical treatments are crucial, certain lifestyle and home remedies can help manage MPS symptoms:

Healthy diet: A balanced diet can support overall health and address gastrointestinal issues.
Exercise: Regular physical activity can improve joint mobility and muscle strength.
Routine check-ups: Regular medical check-ups can help monitor and manage symptoms.

Emotional and Psychological Support

Living with MPS can be challenging for affected individuals and their families. Emotional and psychological support is essential to cope with the impact of the disorder. Support groups, counseling, and therapy can provide valuable resources and a sense of community.

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