ABOUT PKU

What is Phenylketonuria?

Phenylketonuria (PKU) is a rare genetic condition in which the body cannot break down the essential amino acid phenylalanine. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and in some artificial sweeteners. Your body uses the enzyme phenylalanine hydroxylase to convert phenylalanine to tyrosine, a nonessential amino acid. Tyrosine is necessary for your body to make neurotransmitters like epinephrine, norepinephrine, and dopamine.
Without treatment for PKU, phenylalanine would build up in your body, and the buildup would cause damage to your nervous system and brain.

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