Sanfilippo syndrome

Also known as: Mucopolysaccharidosis type III

Lysosomal storage disease with severe neurodegeneration.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric metabolism
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset 2–6 years
Gene(s) involved: GNS, HGSNAT, NAGLU, SGSH

Etiology & mechanism

Deficiency of heparan sulfate degradation enzymes.

Gene(s) involved (4)

GNSHGSNATNAGLUSGSH

Symptoms & signs (5)

behavioral problemsdevelopmental regressionhyperactivitymild somatic featuressleep disturbance

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.