What is the Anatomy and Physiology for Phenylketonuria (PKU)?

Question

(Parts of the body and functions affected)

Please cite sources

Answer 1

PKU is a human genetic disorder of the PAH-gene on chromosome 12, in which the body does not produce the enzyme phenylalanine hydroxylase, which does not allow conversion of the amino acid phenylalanine to tyrosine -- it is instead converted to phenylpyruvate, which is toxic to the CNS and causes mental retardation. Primary pathological effects are mediated through its effeccts on the brain, though it is technically a systemic disease. PKU commonly manifests itself in childhood, and is exacerbated via consumption of foods that contain the phenylalanine, such as meat, dairy products, fish, grains and legumes. Primary treatment is to restrict such foods from the diet

Answer 2

anatomy physiology phenylketonuria pku