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All Diseases > Sanfilippo syndrome B
Sanfilippo syndrome B (MPS IIIB)
Alternative Names: Mucopolysaccharide Storage Disease Type III B; Mucopolysaccharidosis Type III B; Sanfilippo Disease
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down heparan sulfate (a complex sugar molecule containing sulfate). This disease is one of four types (A, B, C, and D), each caused by different mutated genes. Some symptoms include psychomotor (mental and motor skill) regression, behavioral and sleep problems, hirsutism (excessive hair growth), seizures, unsteady gait, and vision and hearing loss.
Research groups studying this disease
Lysosomal Disease Network (LDN)View Disease Definition
Cure Sanfilippo Foundation
Accelerates research to find the first-ever FDA-approved treatment or cure for Sanfilippo syndrome.