Phenylketonuria

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Phenylketonuria test

Phenylketonuria test

PKU

• Skin rashes ( eczema )
• Microcephaly
• Tremors
• Jerking movements of the arms or legs (spasticity)
• Unusual positioning of hands
• Seizures
• Hyperactivity
• Delayed mental and social skills
• Mental retardation
• A distinctive "mousy" odor to the urine, breath, and sweat
• Light complexion, hair, and eyes

Tests include an enzyme assay to determine if the parents carry the defective gene responsible for PKU. During pregnancy, a chorionic villus sample may be taken to screen the unborn baby for PKU.

PKU is a treatable disease that can be easily detected with a simple blood test. Most states require a PKU screening test for all newborns. The test is generally done with a heelstick shortly after birth.

Review Date: 08/18/2006
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.