define phenylketonuria (PKU)

PKU or Phenylketonuria, When we digest protein foods, they are broken into their constituent amino acids, one of which is fenile, these amino acids are taken by the cells.  Within the cells, due to some enzymes, phenylalanine is associated with amino acids, which form part of the cell protoplasm to form structural proteins. 

If phenylalanine is not used by body cells in this way, it remains inside the blood and as it passes through the liver, it can be processed by an enzyme that converts it into tyrosine, which is another amino acid. Still, another enzyme will convert some phenylalanine into phenylfruvic acid. Each enzyme is formed by a mutation in a gene and one of the genes, these genes can break the range of conversions.

In PKU, the gene that codes for phenylalanine H-monooxygenase. The enzyme responsible for turning phenylalanine into tyrosine is changed so that it is no longer the code for that protein. Monogenic indigestion cannot be produced for this recurrent gene. 

Since conversion to phenylalanine in tyrosine is blocked, it has increased in levels by the products of phenylalanine metabolism

Important here is the phenylpyruvate. The blood is stored in the fennelfruvate at the level of 50 to 100 times the normal values ​​and in large quantities in urine. 

In childhood, walking more frequently, the phenylfruvut interferes with the development of the normal brain, causing serious mental discomfort, retardation. Since the disease is caused by a genetic defect, it can be inherited, and passed from generation to generation.