Word parts
What it means
A genetic disorder (autosomal recessive) in which an enzyme that processes phenylalanine is missing or weak. Without treatment, phenylalanine builds up in the blood and harms the developing brain, causing intellectual disability. It is found through the newborn screening blood test and treated with a lifelong low-phenylalanine diet and special formula.
For the nurse
Collect the newborn screening blood spot from the heel at the right time, usually 24 to 48 hours after birth. Teach families to limit high-protein foods and to avoid the sweetener aspartame, which contains phenylalanine; a person with PKU who becomes pregnant needs strict diet control.
At a glance
| Also written | PKU |
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Related terms
amino acid
One of the small building blocks that join together in chains to make proteins.
newborn
A baby in the first 28 days of life.