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Genetics (Birth Defects and Metabolic Disorders)
State’s newborn screening program
Dr. Richard ErbeRichard Erbe, MD is chief of the Division of Genetics at Women & Children's Hospital of Buffalo; founding fellow of the American Board of Medical Genetics; and professor of pediatrics at the University of Buffalo Jacobs School of Medicine and Biomedical Sciences.
In 1958, Robert Guthrie, MD, PhD – a bacteriologist and physician at what was then known as Children’s Hospital of Buffalo – developed a simple and effective test for detecting phenylketonuria (PKU), a genetic disorder that results in mental retardation and other neurological problems when treatment is not initiated within the first few weeks of life.
Guthrie’s test came to be used throughout the United States and in dozens of countries worldwide to screen for PKU; what’s more, his blood collection system made possible the expanded newborn screening programs conducted today.
Fittingly, in the eight-county region of Western New York, the referral center for the state’s Newborn Screening Program is the Division of Genetics at Women & Children’s Hospital of Buffalo, located just steps from where Guthrie prepared his revolutionary test.
Although newborn screening now detects infants who may have any of 30 or more disorders, the most common referral you receive from it continues to be infants with a positive screen for PKU, the progressive disease characterized by the body’s inability to metabolize the amino acid phenylalanine. What kind of research into PKU are specialists within your division engaged in?
The treatment of PKU has changed little in the past 25 years. Although effective in preventing mental retardation in children, it has been found to be less than fully effective by the time the person is an adult. Even worse, many older children and adults abandon the therapeutic diet because of its severe limits on dietary choices. We are joining in a large, nationwide study to find improved treatment methods for PKU while allowing for a more palatable diet. All told, we have about 80 different families in Western New York that we’re following who have kids with PKU. Although there’s considerable understanding of the disease, there are still many unanswered questions, like why siblings affected with the same genetic defect seem to have quite different outcomes, or why some kids with high phenylalanine concentrations still seem to do fine in school and in others areas.
In 2006, screening for Krabbe disease, a rare lysosomal disorder, was added to the New York State Newborn Screening Program. This was largely due to the advocacy work of former-Buffalo Bills quarterback Jim Kelly, whose son died of the disease at the age of 8. How is the Genetics Division helping us better understand this disorder?
We are part of the Krabbe Consortium of New York State, which brings together the eight inherited metabolic disease centers across the state to refine the diagnosis and management of infantile Krabbe disease and enhance long-term follow-up of patients. The consortium was established by Dr. Patricia Duffner, a pediatric neurologist at Women’s and Children’s Hospital of Buffalo and UB. This is the first time that new testing mandated by a state has been evaluated by a consortium of physicians.
Lysosomes, structures that are present in most cells, contain 40 enzymes that are important in metabolism. Any of these can be made deficient by inherited mutations. Replacement enzymes that can be given intravenously to slow progression of symptoms have been developed for four of the 40 disorders, so it’s key to find patients as early as possible through newborn screening. Krabbe Disease is not one of the disorders for which enzyme therapy can be used, but bone marrow transplant has been used. Screening of more than a million newborns in New York State has identified 300 considered at high risk for Krabbe Disease, of which three were referred to Duke University for transplant and one was successfully transplanted.