True statement regarding a 3-week old child with Phenylketonuria is all, except –
Correct Answer: Phenylalanine should be completely stopped in diet
Description: Phenylamine should be restricted in diet, however, it should not be completely eliminated, as it is necessary for normal growth.
Phenylketonuria
It is an autosomal recessive condition.
There is a deficiency of enzyme phenylalanine hydroxylase.
Pathophysiology
Because phenylalanine is not metabolised by hydroxylase, metabolism is shifted to the alternative pathway (see above explanation) and there is an increased concentration of -
Phenylalanine
Phenylpuruvic acid
Phenylacetic acid
Phenylacetic acid
Because phenylalanine is not converted into tyrosine, tyrosine becomes an essential amino acid.
Treatment :
The goal of therapy is to reduce phenylalanine and its metabolites in body fluids in order to minimize or prevent brain damage.
Administration of low phenylalanine levels is the mainstay of treatment.
Dietary treatment should be started as soon as after birth as the diagnosis is established.
Because phenylalanine is not synthesized in the body, Tyrosine becomes an essential A.A. in this disorder, and its adequate intake must be ensured.
Category:
Pediatrics
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