Please enable JavaScript.
Coggle requires JavaScript to display documents.
Phenylketonuria - Coggle Diagram
Phenylketonuria
Is PKU inherited?
-
-
-
Gene alterations in the PAH gene cause PKU, low levels of an enzyme called phenylalanine hydroxylase.
-
-
-
What is it?
It is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
-
It is found in foods and some artificial sweeteners and without dietary treatment can build up to harmful levels in the body.
How is it diagnosed?
PKU is normally diagnosed through newborn screening testing that is done shortly after birth on a blood sample.
-