Sanfilippo

Sanfilippo is primarily a surname of Italian origin. It is derived from the compound name San Filippo, referring to Saint Philip. The name is carried by individuals and families around the world, especially in Italy and countries with Italian heritage.

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare genetic disorder within the lysosomal storage diseases. It results from deficiencies of enzymes needed to break down heparan sulfate, a type of glycosaminoglycan. As a result, heparan sulfate accumulates within lysosomes, particularly affecting the central nervous system and leading to progressive neurocognitive decline.

There are four subtypes—IIIA, IIIB, IIIC, and IIID—corresponding to different enzyme defects. Onset is usually in early childhood and symptoms include developmental delay, speech and language impairment, behavioral disturbances, sleep problems, and gradual loss of skills. Physical features may be mild relative to other MPS disorders, and organ involvement is variable.

Diagnosis is based on clinical features supported by laboratory testing of enzyme activity in leukocytes or fibroblasts and genetic testing. Newborn screening is available in some regions. There is currently no cure; treatment is supportive and multidisciplinary. Experimental therapies, including gene therapy and substrate reduction approaches, are under investigation, but none are widely approved. Management focuses on preserving quality of life, addressing sleep and behavior, physical therapy, and comprehensive supportive care.