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His name is associated with a rare and fatal childhood disease, which he helped identify 50 years ago. His satisfaction was that he lived long enough to know that gene therapy breakthroughs could soon produce a cure.

Dr. Sylvester Sanfilippo, a Twin Cities pediatrician and researcher who earned international recognition for his discovery of a genetic disorder centering around enzyme defects, died of cancer May 2 in Bloomington. He was 87.

In 1963, at the annual meeting of the American Pediatrics Society, Sanfilippo presented three years' worth of research at the University of Minnesota School of Medicine detailing how children who are missing an essential enzyme are affected by the steady accumulation of a partly unbroken body sugar.

He explained how this particular sugar, known as mucopolysaccharide, builds up in the cells of the brain and body, eventually causing mental retardation, dementia and loss of speech — and killing most patients by their late teens. Throughout the world of pediatric medicine, the newly discovered disorder was thereafter known as Sanfilippo syndrome.

The son of Sicilian immigrants who ended up in Rochester, N.Y., Sanfilippo took a childhood interest the sciences, pushed by his parents' philosophy that "education was the key" to success, said Sarah Sanfilippo, his daughter. After graduating from the University of Rochester, Sanfilippo and his new wife, Edna, headed to the University of Utah, where he received a master's degree and then his medical degree.

"They looked around the country [for] a good place to raise kids, and they chose Minnesota and found that the university had a great pediatrics program," his daughter said.

"He was a very 'low ego' man,'' she added. "It was not about him or what he'd discovered. Being recognized is not what made him tick."

Sanfilippo's discovery finally allowed pediatricians to accurately diagnose children whose appearance and behaviors were becoming unexplainable, according to his son, Robert.

"Often, this disease doesn't manifest itself until a child is 5 years old, and so this discovery helped parents get a clear understanding of their child's condition, that it was caused by a genetic error and not caused by something they thought they did," Robert Sanfilippo said. "It took the guilt away that they'd done something wrong in raising their child."

Recently, Nationwide Children's Hospital in Columbus, Ohio, received a $550,000 grant from three foundations to conduct a study that will lead to gene therapy trials to find a cure. In part, the study will examine how the defective "carrier" genes of parents are passed down to their affected child.

"Dr. Sanfillipo's legacy is that while he discovered the causes of a devastating disease, he set the course for finding a cure," said Stuart Siedman, vice president of Ben's Dream — The Sanfilippo Foundation, which was a contributor. "The big excitement with these trials is that the gene therapy may allow the body to start to repair itself."

Siedman and his wife are both carriers of defective genes that caused their son, Ben, 17, to inherit the syndrome. "We didn't think he'd live this long," Siedman said of his son. He said he spoke to Sanfillipo in 2000 and was struck by the doctor's demeanor. "He'd moved out of research by then and was in pediatrics, but you could feel what a caring, empathetic person he was — and how excited he was with the advancements to find a cure."

Sanfillipo is survived by his wife of 63 years, Edna, three children and seven grandchildren. A memorial service will be held Friday at Friendship Village in Bloomington.

Paul McEnroe • 612-673-1745