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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 must be seen that day. A positive report
must be discussed with your local metabolic physician to arrange
for treatment and more detailed assessment and testing of the
infant; 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.
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)
Discussion with parents 
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