Sanfilippo syndrome
Jump to navigation
Jump to search
English
[edit]
Etymology
[edit]Named after the US doctor Sylvester Sanfilippo who described the condition.
Noun
[edit]Sanfilippo syndrome (uncountable)
- (pathology) A rare autosomal-recessive lysosomal storage disease that primarily affects the brain and spinal cord, caused by a buildup of glycosaminoglycans in the body's lysosomes.
- Synonym: mucopolysaccharidosis type III