PKU
1
7.7
- noun
- /piː keɪ juː/
- Specialized
- As an adult living with PKU, I am obviously affected by newborn screening.
- PKU test
Examples
-
Back to our iconic mutation disease from the other day there, PKU phenylketonuria.
-
One example is the inherited metabolic disorder called phenylketonuria (pronounced as fen-ul-kee-ta-new-re-a) or PKU.
Academic text (2010) -
This test is usually known as the PKU test.
Blog text (24) -
This can be prevented if a baby with PKU is put on a special diet early.
Blog text (29) -
The only one we allowed the hospital to perform was the PKU, and only because I couldn't convince my husband it was unnecessary.
Blog text (24) -
If untreated, PKU results in severe intellectual retardation.
Academic text (2010) -
For example, babies with phenylketonuria (PKU) cannot process phenylalanine well.
Blog text (29) -
So for PKU, this is exhibiting what's a type of inheritance known as autosomal recessive.
-
If untreated, PKU can lead to severe intellectual disability in children.
-
Babies diagnosed with PKU must follow a low-phenylalanine diet to avoid serious health issues.
Synonyms
1
9.9
A rare inherited disorder where the body cannot break down phenylalanine, causing learning and health problems if untreated
Compounds
- Specialized
1
3.5
A blood test for newborn babies to check for a genetic disease that can harm brain development if untreated
Surface Forms
Etymology
PKU is a short form of the medical name phenylketonuria, which is made from three parts: phenyl, ketone and uria. The uria part means 'urine' because doctors first found the chemical in the urine, so PKU names the condition when that chemical builds up because the body cannot break it down.