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Pediatrics General e6d32d0c

True statement regarding a 3-week old child with Phenylketonuria is all, except –

A
Provocative protein meal tests helps in the diagnosis
B
Tyrosine becomes an Essential amino–acid in diet
C
Serum Phenylalanine is increased and urinary Phenyl Pyruvate level is elevated
D
Phenylalanine should be completely stopped in diet
High-Yield Explanation
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.

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