Phenylketonuria
Alternate Names : PKU, Phenylalanine Hydroxylase Deficiency
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 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
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