Definition
Mucopolysaccharidosis type I is a lysosomal storage disease characterized by coarse facial appearance, skeletal anomalies, and progressive neurological impairment, resulting from alpha-L-iduronidase enzyme deficiency.
Symptoms
- Rough facial appearance
- Skeletal anomalies
- Hepatosplenomegaly
- Corneal opacity
Reasons
IDUA gene mutation.
Diagnosis
Urine GAG, enzyme activity.
Treatment
Enzyme replacement therapy, bone marrow transplantation.
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.