True statement regarding a 3-week-old child with phenylketonuria are all, EXCEPT:
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
Provocative protein meal tests help in the diagnosis
Tyrosine becomes an essential amino acid in diet
Serum phenylalanine is increased and urinary phenyl pyruvate level is elevated
Phenylalanine should be completely stopped in diet
Disorders of Amino acid Metabolism