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Pediatrics Disorders of Amino acid Metabolism d9313490

True statement regarding a 3-week-old child with phenylketonuria are all, EXCEPT:

A
Provocative protein meal tests help 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
In Phenylketonuria, low phenylalanine diet is used (Because phenylalanine is not synthesized endogenously, small amounts of phenylalanine should be added to the diet to prevent phenylalanine deficiency.) Serum and urine phenylalanine and its metabolites are increased Tyrosine becomes an essential amino acid Blood for screening should be obtained after 24-48 hrs (Protein feeding) to prevent false -ve result. C/F: Microcephaly Epilepsy Musty body odour Reduced skin/hair/eye pigmentation

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