Dr. Saul Brusilow, a pediatrician and biochemical geneticist who developed groundbreaking therapies to treat the complications of rare and often fatal genetic defects, died on April 19, 2020. He was 92, lived in Bethesda, Maryland and taught at Johns Hopkins University for over 50 years where he retired as a Professor Emeritus. The cause was complications of Parkinson's disease.

Dr. Brusilow was internationally recognized in the field of Pediatric Inherited Diseases of Metabolism, most notably for his research and successful therapies to treat a group of genetic and biochemical disorders of the urea cycle, a metabolic process that uses six enzymes to rid the body of excess nitrogen. If any of the enzymes fails to function properly because of a genetic mutation, nitrogen builds up in the form of ammonia that can damage the brain and cause death.

The treatments developed by Dr. Brusilow were among the first small-molecule drug therapies to effectively treat any disease produced by a genetic disorder.

In remarks on the occasion of John Hopkins honoring Dr. Brusilow in 2008, Dr. George Dover, then Director of Pediatrics, stated that the chemical therapies Brusilow developed "has saved the lives of thousands of individuals – mainly children who would have died or suffered brain damage from unrelenting ammonia toxicity."  For his work in this area he received the Joseph P. Kennedy Jr. Foundation International Scientific Research Award in 1995 and the National Urea Cycle Foundation Award. His work also was recognized in 1997 by the National Organization for Rare Disorders (NORD).

At its award ceremony, the Kennedy Foundation noted that Dr. Brusilow "is almost unique as a scientist to have discovered the defect, figured out how it functioned, developed the treatment, manufactured the drug in his laboratory because no drug company would, and standardized the treatment worldwide."

Dr. Brusilow, in 1979, "had the really brilliant and very elegant idea of using the body's own methods of getting rid of extra nitrogen by giving patients chemicals they already make in small amounts in large doses to make up for the missing urea cycle enzyme they inherited," according to Dr. Ada Hamosh, clinical director of the Johns Hopkins University Institute of Genetic Medicine.  The effectiveness of the two chemicals, sodium phenylacetate and sodium benzoate, "just knocked my socks off from the moment we first tried them," Dr. Brusilow once commented. "In all my years I never came across another disease where patients come in near-comatose and you stick a needle in them and lo and behold, they wake-up just like that. It was just astonishing." The drug combination was approved by the U.S. Food and Drug Administration in 1996.

Dr. Brusilow was born in Brooklyn, New York in 1927. After graduating from Poly Prep Country Day School in Brooklyn, he enlisted in the Navy in 1945 and was honorably discharged the following year. He graduated from Princeton University in 1950 and then received his medical degree from the Yale University School of Medicine in 1954, where he began his training in pediatrics. After completing both an internship and one year of his residency training at Grace-New Haven Community Hospital, he completed his residency and a fellowship in pediatrics at The Johns Hopkins Hospital in Baltimore in 1959.

His inspiration to attend medical school was his father, Dr. Samuel Brusilow, who emigrated to the United States as a teenager from Odessa, Russia in 1906, learned English and graduated from the Long Island College of Medicine in 1917. After serving in the Public Health Service and taking care of soldiers returning from World War I and of victims of the great influenza of 1918 ("they were dropping like flies," he once recounted), he was a general practitioner and a pediatrician in Brooklyn for almost 40 years.  Dr. Brusilow recalled accompanying his father on house visits during the Great Depression where he accepted live chickens or whatever his patients could offer as payment.

The dedication to patients learned from his father was his guiding principle in his steadfast determination to obtain FDA approval for his urea cycle treatment and for always being "on call for families around the world, lending his time and talent to allow children with these disorders to grow up normally," said the Kennedy Foundation.  Abbey Meyers, former president of NORD, added that other scientists and physicians would have withered in the face of red tape and regulatory hurdles to get the treatment approved, but Brusilow's tenacity and sense of mission prevented the lifesaving drugs from being lost.

During his tenure at Johns Hopkins, Dr. Brusilow served as Director of the Cystic Fibrosis Clinic (1959-1968), Director of the Division of Pediatric Nephrology (1969-1981), and Director of the Division of Metabolic Diseases (1981-1998). In addition to his ground-breaking work on urea cycle disorders, Brusilow is credited by Dr. Dover with "substantial research contributions" on the "biology of sweat formation and the genesis of the electrolyte abnormalities in the sweat of individuals with cystic fibrosis" and with work that is "used routinely today to diagnose children suspected of cystic fibrosis."

Dr. Brusilow was a talented athlete, running track in both high school and college, and became an avid sailor later in life. He is survived by his children William (Cynthia) of Grosse Pointe, MI and Susan (Stephen) Solomon of Chevy Chase, MD; his grandchildren Evan Solomon and Nicholas, Samuel, and Isabelle Brusilow.  He was predeceased by his wife Sallie (Evans) Brusilow and his son Alexander Brusilow.

Donations in his memory may be made to the Gilman School, please designate the Alexander Brusilow Fund; 5407 Roland Ave, Baltimore, MD 21210