Medicine Online
Any medical inquiries? Search MOL for answers:
Home > Medical Articles > Topics beginning with P > Phenylalanine Hydroxylase Deficiency - Phenylketonuria > Symptoms & Signs
Medical References
Diseases & Conditions
Women's Health
Mental Health
Men's Health
Medical Web Links
MOL Site Map
Medical Tips
Attention, chocolate lovers: You may not be able to help yourselves. Swiss and British scientists have linked the widespread love of chocolate to a chemical "signature" that may be programmed into our metabolic systems.
Read more health news

Phenylalanine Hydroxylase Deficiency - Phenylketonuria


Symptoms & Signs

What are the signs and symptoms of the disease?

A newborn who has PKU will appear normal. By the age of four months, symptoms of arrested brain development will begin to appear. If the PKU is untreated, severe, irreversible communication\ \education, including reading, writing, and basic math\ \motor function\ \personal care, such as bathing, dressing, eating, and toileting\ \social skills\ \thinking skills, such as decision making, problem solving, and self-direction\ \working\ ',CAPTION,'Mental Retardation');" onmouseout="return nd();">mental retardation will occur.

Signs and symptoms of PKU may include the following:

  • abnormal movements, which may be writhing in nature
  • behaviors resembling autism, which is a pervasive developmental delay
  • decreased muscle tone
  • difficulty walking
  • a head that is smaller than normal in size
  • learning disabilities
  • a musty odor due to skin excretion of phenylacetic acid
  • psychotic episodes, in which the person is unable to distinguish reality from fantasy
  • rapid decrease in IQ in the first year of life
  • seizures
  • skin lesions or rough, dry skin

  • HomeSitemap Contact UsAdvertisingPress RoomGive Us Your FeedbackRead Our Terms & Conditions and Our DisclaimerPrivacy Statement