Question

A two - week - old baby is found to have had an abnormal result on newborn screening. A second sample is run, showing an elevated serum phenylalanine level and confi rming the diagnosis of phenylketonuria (PKU). The baby ’ s parents are then referred to a metabolic geneticist for follow - up. When they arrive at the specialist ’ s offi ce, they look anxious and concerned. They are somewhat nervous and puzzled about their situation because their baby appears healthy, has been feeding well, and exhibits no outward signs of any abnormalities. The parents insist that the results must be a mistake because there is no known family history of metabolic disease on either the mother ’ s or the father ’ s side. How would you approach these parents? What would you say to them?

Answer 1

Hi, good day, im sister x, working in this metabolic geneticist office as a senior nursing staff. You both seemed to be worried about the lab results of your baby. Since you have come to consult one of the leading metabolic genetics in this country we will try to figure out the best options available for your baby

Phenylketonuria is an inborn error of metabolism, causing decreased metabolism of the amino acid called phenylalanine. It is an autosomal recessive genetic disorder inherited from baby's parents. People carrying only one phenylketonuria allele will be not be having any symptom, only people having two phenylketonuria will have symptoms, that is why the parents are not symptomatic.

Since mothers body is able to break down phenyalanine during pregnanncy,new borns are usually healthy and will be feeding well. Only in the later stages of their life they will show symptoms. But screening blood tests can detect phenylketonuria in new borns, that is why we suggest screening test of all new borns for phenylketonuria.

Treatment is by avoiding foods that are rich in phenylalanine. Various protein supplements are also available in market which are free of phenylalanine