Sylvester Sanfilippo
Encyclopedia
Sylvester Sanfilippo is a pediatrician
from Edina, MN
, who first described a mucopolysaccharide storage disease
which bears his name. Sylvester Sanfilippo was born in Rochester, New York
, on January 1, 1926. After graduating from the University of Rochester
in 1947, he moved to Salt Lake City to pursue postgraduate studies. There he received a Master of Science
degree in Biochemistry
and earned his medical degree
in 1955. He acquired his pediatric training at the University of Minnesota
, interrupted by a two-year stint as a pediatrician in the United States Navy Medical Corps in Portsmouth and Norfolk, Virginia
.
In 1960 Sanfilippo was awarded a postdoctoral research fellowship and began a comprehensive study of children with mucopolysaccharide storage disease at the University of Minnesota. The investigative approach combined the chemical measurement and identification of urinary acid mucopolysaccharides with a thorough clinical evaluation of each patient.
The work of Sanfilippo and his colleagues described eight mentally retarded
children with mucopolysacchariduria of a single compound, heparitin sulfate. In contrast, their thirteen patients with Hunter-Hurler Syndrome showed mucopolysacchariduria of two compounds, heparitin sulfate and chondroitin sulfate
B. The majority of the heparitin sulfate excretors had a normal or near-normal facial appearance and displayed mild to slight somatic and radiographic manifestations in comparison with their Hunter-Hurler
counterparts, who showed more severe involvement. These observations indicated the existence of a new inborn error
of the mucopolysaccharide metabolism.
Sanfilippo presented the results of the study at the annual American Pediatric Society
Meeting in May, 1963, and published a report later that year.
He entered the private practice of Pediatrics in April, 1962, but continued his research at the University of Minnesota for several more years. During his practice years he participated in regional health care
planning and published a perinatal mortality
review study (1976). Sanfilippo enjoyed his teaching experiences with medical students and physicians-in-training. He retired from private practice in June 1988.
Pediatrics
Pediatrics or paediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. A medical practitioner who specializes in this area is known as a pediatrician or paediatrician...
from Edina, MN
Edina, Minnesota
Edina is a city in Hennepin County, Minnesota, United States, and a first-ring suburb situated immediately southwest of Minneapolis. Edina began as a small farming and milling community in the 1860s. The population was 47,941 at the 2010 census.-Geography:...
, who first described a mucopolysaccharide storage disease
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...
which bears his name. Sylvester Sanfilippo was born in Rochester, New York
Rochester, New York
Rochester is a city in Monroe County, New York, south of Lake Ontario in the United States. Known as The World's Image Centre, it was also once known as The Flour City, and more recently as The Flower City...
, on January 1, 1926. After graduating from the University of Rochester
University of Rochester
The University of Rochester is a private, nonsectarian, research university in Rochester, New York, United States. The university grants undergraduate and graduate degrees, including doctoral and professional degrees. The university has six schools and various interdisciplinary programs.The...
in 1947, he moved to Salt Lake City to pursue postgraduate studies. There he received a Master of Science
Master's degree
A master's is an academic degree granted to individuals who have undergone study demonstrating a mastery or high-order overview of a specific field of study or area of professional practice...
degree in Biochemistry
Biochemistry
Biochemistry, sometimes called biological chemistry, is the study of chemical processes in living organisms, including, but not limited to, living matter. Biochemistry governs all living organisms and living processes...
and earned his medical degree
Doctor of Medicine
Doctor of Medicine is a doctoral degree for physicians. The degree is granted by medical schools...
in 1955. He acquired his pediatric training at the University of Minnesota
University of Minnesota
The University of Minnesota, Twin Cities is a public research university located in Minneapolis and St. Paul, Minnesota, United States. It is the oldest and largest part of the University of Minnesota system and has the fourth-largest main campus student body in the United States, with 52,557...
, interrupted by a two-year stint as a pediatrician in the United States Navy Medical Corps in Portsmouth and Norfolk, Virginia
Norfolk, Virginia
Norfolk is an independent city in the Commonwealth of Virginia in the United States. With a population of 242,803 as of the 2010 Census, it is Virginia's second-largest city behind neighboring Virginia Beach....
.
In 1960 Sanfilippo was awarded a postdoctoral research fellowship and began a comprehensive study of children with mucopolysaccharide storage disease at the University of Minnesota. The investigative approach combined the chemical measurement and identification of urinary acid mucopolysaccharides with a thorough clinical evaluation of each patient.
The work of Sanfilippo and his colleagues described eight mentally retarded
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
children with mucopolysacchariduria of a single compound, heparitin sulfate. In contrast, their thirteen patients with Hunter-Hurler Syndrome showed mucopolysacchariduria of two compounds, heparitin sulfate and chondroitin sulfate
Chondroitin sulfate
Chondroitin sulfate is a sulfated glycosaminoglycan composed of a chain of alternating sugars . It is usually found attached to proteins as part of a proteoglycan. A chondroitin chain can have over 100 individual sugars, each of which can be sulfated in variable positions and quantities...
B. The majority of the heparitin sulfate excretors had a normal or near-normal facial appearance and displayed mild to slight somatic and radiographic manifestations in comparison with their Hunter-Hurler
Hurler syndrome
Hurler syndrome, also known as mucopolysaccharidosis type I , Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes...
counterparts, who showed more severe involvement. These observations indicated the existence of a new inborn error
Inborn error of metabolism
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others...
of the mucopolysaccharide metabolism.
Sanfilippo presented the results of the study at the annual American Pediatric Society
American Pediatric Society
The American Pediatric Society / Society for Pediatric Research are joint professional and advocacy organizations for pediatricians in the United States and Canada....
Meeting in May, 1963, and published a report later that year.
He entered the private practice of Pediatrics in April, 1962, but continued his research at the University of Minnesota for several more years. During his practice years he participated in regional health care
Health care
Health care is the diagnosis, treatment, and prevention of disease, illness, injury, and other physical and mental impairments in humans. Health care is delivered by practitioners in medicine, chiropractic, dentistry, nursing, pharmacy, allied health, and other care providers...
planning and published a perinatal mortality
Perinatal mortality
Perinatal mortality , also perinatal death, refers to the death of a fetus or neonate and is the basis to calculate the perinatal mortality rate. Variations in the precise definition of the perinatal mortality exist specifically concerning the issue of inclusion or exclusion of early fetal and...
review study (1976). Sanfilippo enjoyed his teaching experiences with medical students and physicians-in-training. He retired from private practice in June 1988.