Team:Imperial College London/M1/PKU

Phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive genetic disorder where the body is unable to break down the amino acid phenylalanine. This is because of a deficiency of an enzyme called phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine. Absence of PAH causes phenylalanine to break down into phenylketone instead. A chronically high level of phenylalanine, called hyperphenylalaninemia will result. Phenylalanine then accumulates in blood and tissues and results in characteristic symptoms of PKU. Left untreated, PKU can lead to problems with brain development resulting in progressive mental retardation and brain damage.

Current treatments for PKU are centred around following a very strict low-protein diet. By engineering the E.ncapsulator to manufacture PAH, we hope that our cells can be taken as a dietary supplement to replace the missing PAH. This will break down phenylalanine from the diet, before it is absorbed into the bloodstream.

Phenylalanine Hydroxylase Model

This applet allows you to visualise the PAH 3D structure.

Useful Links