Definition
Mucopolysaccharidosis type IV is a lysosomal storage disease characterized by keratan sulfate metabolism disorder, severe skeletal anomalies, and corneal opacity.
Symptoms
- Serious skeletal abnormalities
- Short stature
- Corneal opacity
- Cardiac involvement
Reasons
GALNS or GLB1 gene mutations.
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.