Definition
Mucopolysaccharidosis type II is an X-linked recessive lysosomal storage disease that develops as a result of iduronate-2-sulfatase enzyme deficiency.
Symptoms
- Rough facial appearance
- Skeletal anomalies
- Behavioral problems
- Hearing loss
Reasons
IDS 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.