ANSWER:PAEDIATRIC MCQ 20:The following statements regarding classical phenylketonuria

 

 

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20) The following statements regarding classical phenylketonuria (PKU) are correct

 

TTFFT

Comments:
Classical PKU is the result of a deficiency of phenylalanine hydroxylase. Eczema is often
present in younger children, which disappears as the child grows older. Phenylalanine levels
may rise to levels that are detectable by the Guthrie test as soon as 4 hours after birth, even
before the ingestion of protein containing milk. It is recommended that a diet low in
phenylalanine is continued for life. It has been shown that changes in white matter on stopping
dietary restrictions are reversible on resumption of a low phenylalanine diet. It is essential that
women with PKU should be on a diet low in phenylalanine in the preconception period to avoid
damaging a normal fetus.


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