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Senate Co-Sponsorship Memoranda
Senate of Pennsylvania
Session of 2015 - 2016
Regular Session
MEMORANDUM
| Posted: | April 9, 2015 04:54 PM |
|---|---|
| From: | Senator Stewart J. Greenleaf |
| To: | All Senate members |
| Subject: | Phenylketonuria Awareness Month |
| I plan to offer a resolution designating May 2015 as “Phenylketonuria Awareness Month” in Pennsylvania. Phenylketonuria, or PKU, is a rare, inherited metabolic disorder that is characterized by the inability of the body to process the essential amino acid, phenylalanine, or Phe, which is found in all foods containing proteins. PKU is caused by a deficiency of the liver produced enzyme phenylalanine hydroxylase (PAH). When this enzyme is absent or deficient, Phe accumulates in the blood and is toxic to brain tissue. Symptoms of PKU can be mild or severe and may include delayed development, behavioral, emotional and social problems, poor bone strength, skin rashes (eczema), a musty odor in the child’s breath, skin or urine and abnormally small head. If treatment of the disease is not started within the first few weeks of life, PKU can result in intellectual disability and other neurological problems, such as memory loss and mood disorders. In 1934 PKU was discovered in Norway by Dr. Asbjörn Fölling, one of Norway’s first physicians to apply chemistry to medicine. Dr. Robert Guthrie developed a laboratory test to detect PKU in newborns in 1961 and two years later newborn screening for PKU was initiated in the United States. In 1965 the Pennsylvania General Assembly approved The Newborn Child Testing Act requiring newborn children to be screened for six genetic or metabolic disorders, including PKU. About 1 of every 15,000 infants is born with PKU in the United States. According to Pennsylvania Department of Health figures for 2013, of the 139,022 newborns screened, 21 were diagnosed with PKU, or, approximately 1 in 6,500 births. Early detection of PKU through newborn blood screening is crucial in helping to prevent major health problems. When treatment is begun within the first few weeks of life and adhered to, affected children can expect normal development and a normal life span. Although there is no cure for PKU, treatment involving medical foods, medications, and restriction of Phe intake can prevent progressive, irreversible brain damage. Access to health insurance coverage for medical food varies across the United States, and the long-term costs associated with caring for untreated children and adults with PKU far exceed the cost of providing medical food treatment. In 1996, the General Assembly approved The Medical Foods Insurance Coverage Act requiring health insurance carriers in Pennsylvania to cover the cost of formulas that are medically necessary to treat PKU and certain other disorders that prevent children from consuming normal foods. The 2012 Phenylketonuria Scientific Review Conference affirmed the recommendation of lifelong dietary treatment for PKU made by the National Institutes of Health Consensus Development Conference Statement 2000. Also, the American College of Medical Genetics and Genomics and Genetic Metabolic Dieticians International published medical and dietary guidelines on the optimal treatment of PKU in 2014. Adults with PKU who discontinue treatment are at risk for serious medical issues such as depression, impulse control disorder, phobias, tremors, and pareses. Women with PKU must maintain strict metabolic control before and during pregnancy to prevent fetal damage. Children born from untreated mothers with PKU may have a condition known as “maternal phenylketonuria syndrome”, which can cause small brains, intellectual disabilities, birth defects of the heart, and low birth weights. Researchers across the United States are conducting important research projects involving PKU. The National PKU Alliance, a non-profit organization, is dedicated to improving the lives of individuals with phenylketonuria and pursuing a cure. Phenylketonuria Awareness Month increases public awareness of the disease and patients’ circumstances, acknowledges the impact of the disease on patients and families and recognizes research for treatment and a cure for PKU. The resolution also urges all Pennsylvanians to learn about this disease. |
Introduced as SR98