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Phenylketonuria (PKU) is a metabolic disorder in which there
is a specific increase in phenylalanine due to decreased activity
of the enzyme phenylalanine hydroxylase (see diagram below). Untreated
PKU causes mental retardation, which is prevented by dietary therapy
beginning soon after birth.
History and Examination
The infant and parents should be seen that day. The result may
be discussed with your local metabolic physician to answer any
questions and facilitate for any potential problems; see contact
metabolic physician 
History will probably be unrevealing.
Examination should reveal an alert healthy appearing neonate
(even in the presence of severe PKU). Note that you should not
expect to see the characteristically described fair child with
fair hair and blue eyes. Also, the pungent mousy odor associated
with untreated PKU children is not present in the neonate.
Discussion with parents 
ENSURE THAT THE REPEAT NEWBORN SCREENING SAMPLE IS SENT TO THE
STATE LABORATORY AND THE RESULT OBTAINED ASAP
(Go to NNSGRC
for the state labs)
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