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.


PKU is usually detected at birth, and all new born babies are tested for the disease using a heel prick test. However, there is currently no cure for the condition. Current treatments 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 in the gut, before it is absorbed into the bloodstream.

Useful Links

[http://www.nspku.org/ NSPKU: National Society for Phenylketonuria]