How do I know if my child has PKU?
All newborn babies in Minnesota* are tested for PKU during the newborn screening test; newborn screening tests for a variety of disorders including PKU. A sample of blood is taken from a prick on the baby's heel, and that blood is screened to see if it has a normal level of phenylalanine. If a high level of phenylalanine is seen, more tests are done to confirm that the baby has PKU.
More information regarding newborn screening can be found at:
Minnesota Department of Health Newborn Screening Program
Background
Since 1965, the Minnesota Department of Health has coordinated with hospitals and health care providers to screen newborns shortly after birth to see if they are at risk for hidden rare disorders. If left untreated, these disorders can lead to illness, physical disability, developmental delay, or death.
March of Dimes Newborn Screening Information
- provide parents with additional options related to testing and storage of specimens; ensure parents are provided with information prior to testing;
- explicitly limit the use of residual samples for quality control, quality assurance, and new test development;
- limit the retention of dried specimens for the purpose of research to 25 months, unless a parent or legal guardian has given written informed consent to retain the sample;
- and provides additional legislative oversight by requiring the Department of Health to regularly report on the program.
If PKU is in your family, there are special tests that can be done to look directly at the PKU genes and determine which family members are carriers for PKU and determine which PKU genes the individual with PKU has.
