Phenylketonuria (PKU) 0.0 / 5 ? Health & Social CareInvestigating diseaseA2/A-levelNone Created by: MackenzieDeardenCreated on: 22-12-17 16:40 What is it? Rare genetic disorder. Prevents a child from breaking down phenylalanine (amino acid). Found in many foods such as, milk, meat and eggs. If a child 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-***** blood test. If high levels of phenlylalanine are detected then treatment starts straight away. 1 of 3 Symptoms Seizures. Tremors or trembling and shaking. Stunted growth. Hyperactivity. Skin conditions such as eczema. A musty odour of their breath, skin or urine. 2 of 3 Treatment 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 leads to severe learning disability and death. 3 of 3
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