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Pku test procedure.
Phenylketonuria (PKU) Screening
What is a PKU screening test?
A PKU screening test is a blood test given to newborns one to three days after birth. PKU stands for phenylketonuria.
It is a rare disorder that prevents the body from breaking down part of a protein called phenylalanine (Phe). Phe is in all foods that contain protein, such as milk, meats, and nuts. It's also in an artificial sweetener called aspartame.
If you have PKU and eat foods with Phe, the Phe will build up in your blood.
If the level gets too high, it can permanently damage your nervous system and brain. The damage can cause many types of health problems, including seizures, psychiatric problems, and learning and developmental disabilities.
A PKU screening test diagnoses PKU by measuring the amount of Phe in a blood sample.
PKU is a genetic disorder.
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That means it's caused by changes (also called variants or mutations) in a gene. Genes are parts of DNA in your cells that you inherit from your parents. Genes carry information that controls what you look like and how your body works.
The gene involved in PKU
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