Mucopolysaccharidosis VI
What is Mucopolysaccharidosis VI (MPSVI)?
Mucopolysaccharidosis VI (MPSVI) is a rare, genetic, multisystemic disorder caused by the deficiency of various enzymes related to the breakdown of glycosaminoglycan (GAG) chains. GAGs are long chains of sugar molecules that are found in the extracellular matrix, tissue fluids, and body organs. MPSVI can cause a wide range of complications, including skeletal abnormalities, developmental delay, and short stature.
People with MPSVI are unable to properly break down GAG chains. As a result, the GAG molecules accumulate in the cells and tissues, and the body’s organs become damaged. MPSVI can be divided into two types, attenuated and severe.
Complications of MPSVI
People who have MPSVI often experience a range of muscle, joint, and bone complications, as well as developmental delays. Symptoms range from mild to severe and include:
- Delayed growth, resulting in short stature
- Enlarged head
- Skeletal abnormalities, including scoliosis and contractures (limited joint movement)
- Gait abnormalities
- Developmental delay
- Learning difficulties
- Hearing loss
Treatment for MPSVI
Treatment for MPSVI is symptomatic and supportive, and is aimed at helping the patient to better manage their symptoms and improve their quality of life. Treatments include:
- Physical therapy, which can help to improve joint mobility
- Occupational therapy, which can help to improve daily living skills and motor skills
- Speech and language therapy, which can help to improve communication and language skills
- Nutritional supplements, which can help to ensure adequate nutrition
- Enzyme replacement therapy, which can help to reduce the accumulation of GAGs in the cells and tissues
- Genetic counseling and genetic testing, which can help to identify possible carriers of the disorder
Living with MPSVI
MPSVI is a chronic condition, which means that it will need to be managed throughout the patient’s life. It is important that people with MPSVI and their families receive support from healthcare professionals in order to manage any symptoms or side-effects and ensure the best possible quality of life.