Mucopolysaccharidosis type III

Also known as: Sanfilippo syndrome

Heparan sulfate storage with prominent neurodegeneration.

Medical specialty: Neurology
Subspecialty: Neurology / Metabolic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, early childhood
Gene(s) involved: GNS, HGSNAT, NAGLU, SGSH

Etiology & mechanism

SGSH, NAGLU, HGSNAT, GNS mutations.

Gene(s) involved (4)

GNSHGSNATNAGLUSGSH

Symptoms & signs (3)

hyperactivityregressionsleep disturbance

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