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General information about phenylketonuria- etiology,symptoms,treatment,diagnosis

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  • meaning that you need to inherit mutations in both copies of the gene to develop the symptoms of the disorder.
  • Phenylketonuria

    1. 1. Overview • Autosomal recessive metabolic genetic disorder • Mutation in the gene for phenylalanine hydroxylase(PAH). • When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate(phenylketone), which can be detected in the urine.
    2. 2. Overview • Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. • Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. • PKU is rare – it is estimated to affect 1 in every 10,000 babies.
    3. 3. Etiology • Autosomal recessive disorder caused by mutation in PAH gene • Located on 12th chromosome. • A carrier does not have symptoms of the disease, but can pass on the defective gene to his or her children.
    4. 4. Symptoms • Most babies with phenylketonuria appear healthy at birth. • Symptoms usually only develop due to complications that arise if the condition is not treated properly. • If it isn't treated, damage to the brain and nervous system can lead to: 1. learning disabilities 2. behavioural difficulties 3. epilepsy
    5. 5. Symptoms • Often have lighter skin, hair, and eyes than brothers or sisters without the disease. • Other symptoms include:  Eczema  Recurrent vomiting  Jerking movements in arms and legs  Tremors  Mood disorders  Microcephaly,
    6. 6. Diagnosis • Screening on blood samples during the first week of life. • If a diagnosis of PKU is confirmed, the child will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they are responding to treatment.
    7. 7. Treatment • Phenylketonuria (PKU) can be successfully treated with a low-protein diet and dietary supplements. • The diet must be strictly followed. • Those who continue the diet into adulthood have better physical and mental health.
    8. 8. Prognosis • The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. • If treatment is delayed or the condition remains untreated, brain damage will occur. • If proteins containing phenylalanine are not avoided, PKU can lead to intellectual disability by the end of the first year of life.
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