A pioneer in PKU screening and treatment

Many thousands of children across the United States have avoided growing up with mental disabilities thanks to the early work in newborn health screening conducted by Helen Berry, a long-time researcher at Cincinnati Children’s.

Berry died Nov. 27, 2012, at a retirement community in Cincinnati. She was 87.

Berry was a pioneer in developing tests to detect and measure amino acids, carbohydrates, and other components of biological fluids. In 1956, shortly after moving to Cincinnati, she began one of the nation’s early programs for treating phenylketonuria (PKU), an inherited metabolic disease that can lead to mental disabilities. In 1958, she launched one of the first programs to screen newborns for PKU. In fact, her Berry spot test was widely used to diagnose PKU until it was superseded by more rapid methods. 

Some of the methods Berry established for diagnosing and managing children with PKU are still followed by practitioners today, according to the American Association for Clinical Chemistry (AACC), which honored Berry in 1986 for her scientific achievements.

 “Helen was one of the best biochemists I ever met,” said Charles Vorhees, PhD, Division of Child Neurology at Cincinnati Children’s ,who worked with Berry first as a student and later as a colleague.  “She knew the metabolic pathway of every amino acid and every amino acid disorder ever described. No matter how senior she was as a professor and division director, she’d take difficult cases and do the chemistry herself.  She would not rest until she understood the exact biochemical defect that child had.”

Berry’s dedication to child health beyond the lab was especially remarkable, says Nancy Leslie, MD, Division of Human Genetics. 

“Helen was a major advocate for the idea that it was never enough to just diagnose patients, one had to make sure that the necessary elements for optimal care were available.   Because of her efforts, part of the newborn screening fee in Ohio is set aside to help pay for metabolic formula,” Leslie says. “Helen believed, before it was accepted elsewhere, that patients with PKU needed to be on a “diet for life.”  The rest of the world accepted that mantra many years later.” 

Berry was born in 1925 in Dallas. She earned a bachelor’s degree in chemistry and a master’s degree in biochemistry and genetics from the University of Texas at Austin. She began her career as a research scientist in the Biochemical Institute at the University of Texas then moved to Cincinnati where she worked until her retirement in 1990.

Berry was director of the Division of Inborn Errors of Metabolism of the Children's Hospital Research Foundation from 1968 to 1985 and director of the Metabolic Disease Center of the Cincinnati Children's Hospital Medical Center until 1990.  She also was a founding member of the Society for Inherited Metabolic Disorders, serving as its secretary/treasurer for many years and as its president in 1990-91.

In 1991, Berry was awarded the Drake Medal by the University of Cincinnati College of Medicine for her outstanding contributions to research. In 1985, she was named a Cincinnati Enquirer "Woman of the Year." She was a member of several scientific societies, including the AACC since 1972.

She is survived by her children Evelyn, of Buffalo, NY; Susan, of St Paul, MN; and Eugene, of Cincinnati; as well as six grandchildren and one great-grandchild. The family requests donations to the Society for Inherited Metabolic Disorders (www.simd.org) or to Northern Hills Unitarian Universalist Fellowship (www.uunhf.org).