Phenylketonuria Learning Center

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Welcome

Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated.

Basic Info

Symptoms
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Ther...
Causes
Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the def...
Tests
PKU can be easily detected with a simple blood test. Most states require a PKU screening test for all newborns. The t...
Treatments
PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the c...
Alternative Therapies
  • Phenylketonuria diet education
Risk Factors
  • Caucasians
Complications
Severe mental retardation occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appear...
Prevention
An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnan...
Doctor Specialties
Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone i...

Basic Info

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Genetic Disorders

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