Phenylketonuria

Rare genetic disorder

Prevents a child from breaking down phenylalanine

Found in many foods such as, milk, meat and eggs.
If a. Hilda has phenylalanine there is a build up of harmful substances in the body that damages brain development.
All babies in the UK are screened at birth using the heel-***** test.
If high levels of phenylalanine are detected then treatment starts straight away.

Seizures
Tremors or trembling and shaking
Stunted growth
Hyperactivity
Skin conditions such as eczema
A musty odour of their breath, skin or urine

Special diet
Medication to prevent harmful build up
A baby with undetected PKU would fail to meet developmental milestones and development delay as their brain is damaged.
Untreated PKU lead to severe learning disability and death.