Living with Phenylketonuria

On the occasion of Rare Disease Day 2012 in Bulgaria we would like to introduce you to the story of a patient with the rare disease phenylketonuria. Phenylketonuria (PKU) is an inherited disorder, caused by the deficiency of the enzyme phenylalaninehydroxylase. This lack leads to inability to metabolise normally phenylanine. As a result, various intermediate metabolic substances are accumulated. PKU symptoms manifest in early infancy – restlessness, vomiting, eczema, decreased muscle tone, abnormal reflexes. Seizures may also occur after 6-month age. Later, there may be behavior changes: aggression, self-aggression, autism. PKU is diagnosed with neonatal screening, which is mandatory in Bulgaria. Treatment of PKU generally represents a phenylalanine-low diet. Kevin Alexander is a PKU patient from the USA. He is also a professional videographer and filmmaker, who has prepared a 10-minute video for PKU. This material is for educational purposes and is available to see here.