Definition
Mucopolysaccharidosis type VII is a rare lysosomal storage disease characterized by beta-glucuronidase enzyme deficiency and characterized by hepatosplenomegaly and skeletal anomalies.
Symptoms
- Hepatosplenomegaly
- Skeletal anomalies
- Developmental delay
- Corneal opacity
Reasons
GUSB 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.
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