What are the symptoms of Phenylketonuria?

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1166803

2026-05-22 18:20

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  • Growth retardation
  • Mental retardation
  • Recurring seizures
  • Hypopigmentation
  • Eczema-like skin rash
  • Infant lethargy
  • Poor infant feeding
  • Vomiting
  • Irritability
  • Eczematoid skin rash
  • Musty body odor
  • Mousey body odor
  • Excess phenylacetic acid in urine
  • Excess phenylacetic acid in perspiration
  • Mental retardation if untreated
  • Short stature
  • Light hair
  • Fair complexion
  • Craniofacial abnormalities if untreated
  • Small head
  • Prominent upper jaw bone
  • Widely spaced teeth
  • Impaired development of tooth enamel
  • Coarse skin
  • Seizures
  • Spasticity
  • Increased muscle tone
  • Increased deep tendon reflexes
  • Reduced sperm count
  • Spontaneous abortions
  • Intrauterine growth retardation
  • Behavioral problems
  • Infant feeding problems
  • Infant drowsiness
  • Infant listlessness
  • Light eyes
  • Light skin
  • Eczematous rash
  • Itching skin
  • Red skin
  • Blistered skin
  • Neurological symptoms
  • Hyperactivity
  • Poor coordination
  • Clumsy gait
  • Abnormal posturing
  • Aggressiveness
  • Psychiatric disturbances
  • Nausea
  • High blood phenylalanine level

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