Phenylalaninemia (medical condition): A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.

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The list of signs and symptoms mentioned in various sources for Phenylketonuria includes the 55 symptoms listed below:

  • 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
  • Light hair
  • Eczematous rash
  • Itching skin
  • Red skin
  • Blistered skin
  • Mental retardation
  • Neurological symptoms
  • Seizures
  • Hyperactivity
  • Poor coordination
  • Clumsy gait
  • Abnormal posturing
  • Aggressiveness
  • Psychiatric disturbances
  • Nausea
  • Vomiting
  • Musty body odor
  • High blood phenylalanine level

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