Sylvester Sanfilippo
Sylvester Sanfilippo (January 1, 1926 – May 2, 2013) was an American pediatrician from Edina, Minnesota. He is best known for first describing Sanfilippo syndrome, a genetic disorder that affects how the body breaks down certain long sugars.
He was born in Rochester, New York. He graduated from the University of Rochester in 1947 and moved to Salt Lake City for graduate studies at the University of Utah, earning a Master of Science in Biochemistry and his medical degree in 1955. He trained in pediatrics at the University of Minnesota and served two years in the U.S. Navy Medical Corps in Portsmouth and Norfolk, Virginia.
In 1960 he received a postdoctoral fellowship and began a detailed study of children with mucopolysaccharide storage disease at the University of Minnesota. He combined chemical tests of urine with careful clinical evaluations. He and colleagues described eight intellectually disabled children who had a single substance in their urine, called heparitin sulfate. In contrast, thirteen patients with Hunter–Hurler syndrome showed two substances, heparitin sulfate and chondroitin sulfate B. The different findings suggested a new inherited disorder of mucopolysaccharide metabolism. Sanfilippo presented these results at the American Pediatric Society meeting in May 1963 and published them later that year.
He started private pediatric practice in April 1962 but continued his research at the University of Minnesota for several more years. He also contributed to regional health care planning and published a perinatal mortality review in 1976. Sanfilippo enjoyed teaching medical students and residents. He retired from private practice in June 1988 and died on May 2, 2013, at the age of 87.
This page was last edited on 3 February 2026, at 11:58 (CET).