Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

Definition

Mucopolysaccharidosis type III is a lysosomal storage disease characterized by heparan sulfate metabolism disorder and severe neurological decline and behavioral problems.

Symptoms

  • Severe neurological decline
  • Hyperactivity
  • Sleep disorders
  • Progressive dementia

Reasons

Various enzyme defects.

Diagnosis

Urine GAG, enzyme activity.

Treatment

Symptomatic treatment.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of status epilepticus, emergency services should be consulted.

This page is for general information purposes only.