Phenylketonuria

Alternative names:

PKU

Symptoms:

• skin rashes (eczema)
• microcephaly
• tremors
• jerking movements of the arms or legs (spasticity)
• unusual hand posturing
• seizures
• hyperactivity
• delayed mental and social skills
• mental retardation
• an offensive odor to the urine and sweat ("mousy" odor)
• light coloration (frequent finding of light complexion, blond hair, and blue eyes)

Signs and tests:

Many children with PKU have a light complexion, blond hair, and blue eyes.

Tests include:

• enzyme assay to detect the carrier state
• chorionic villus sample to detect fetal PKU
• PKU screening (a heel-stick blood sample from the infant to screen for PKU; mandatory in most states in the U.S.)