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Atypical phenylketonuria is picked up on heel prick screening at birth. The discovery is that these patients have a slightly raised phenylalanine level. Over a period of a year or so, the blood is measured to look at trend to see whether or not the levels remain unchanged. In
males, the slight elevation is insignificant and it is likely they will be
discharged. For females however,
this level also remains insignificant until planning a pregnancy.
A slightly elevated phenylalanine level will need close monitoring both
during the pre-conception stage. (When contraception has been purposely stopped
in order to become pregnant) and during the pregnancy.
Elevated phenylalanine is harmful to a developing baby and can cause
serious abnormalities. Management
involves very regular blood spot monitoring (at least weekly).
Adjustment to the diet may be necessary as well as introducing a low
protein supplement. Because
of the possibility that ladies are likely to require treatment to ensure a
pregnancy is unaffected by a raised phenylalanine, it is wise for all females to
maintain contact with their nearest specialist metabolic service which treats
PKU if only to be seen once a year to maintain these links.
Should you be a female reading this article knowing you do not meet with
a specialist PKU team and have a raised phenylalanine, go to your family doctor
and discuss with him / her your situation and ask for a referral. |
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