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CORONAVIRUS ALERT: To protect the children in our care, as well as staff and visitors, we continue to require mask wearing and physical distancing at all Nicklaus Children’s facilities throughout South Florida. Click here for the latest information. Nicklaus Children’s Urgent Care Centers offer COVID-19 testing for children with associated symptoms as part of an urgent care visit.
Nicklaus Children’s Hospital has several outpatient and urgent care centers throughout South Florida, including on-demand, virtual care.
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Also known as: PKU.
Phenylalanine is an amino acid present in many foods high in protein. Ordinarily, the body produces an enzyme that breaks down this amino acid. But people with phenylketonuria do not produce this enzyme, so phenyalanine can build up in the body to dangerous levels.
Phenylketonuria is caused by a genetic mutation. The disease is an inherited disorder that is passed along from parents to their children.
As phenylalanine builds up in the body, it can lead to symptoms such as:
Individuals with phenylketonuria will have to adhere to a strict diet for life that limits protein intake in order to avoid a dangerous buildup of phenylalanine. A special formula can help provide an adequate supply of protein to individuals with phenylketonuria.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: March 16, 2020 10:52 AM
When a newborn baby or an infant's head is found to be much smaller than normal for its age, the condition is known as microcephaly. Learn more
Basic genetic testing is a medical screening or diagnostic test that examines an individual's genes and chromosomes. Learn more