Definition
Mucopolysaccharidosis type VI is a lysosomal storage disease characterized by arylsulfatase B enzyme deficiency, skeletal anomalies, and corneal opacity.
Symptoms
- Skeletal anomalies
- Corneal opacity
- Cardiac involvement
- Normal intelligence
Reasons
ARSB gene mutation.
Diagnosis
Urine GAG, enzyme activity.
Treatment
Enzyme replacement therapy.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of respiratory distress, emergency services should be consulted.
This page is for general information purposes only.