Results of screening for phenylalanine and other amino acid disturbances among pregnant women

Abstract

Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.

Maternal tyrosinaemia II: Management and successful outcome

“…In contrast, mild elevations in maternal plasma tyrosine concentration appear less dangerous. Fois et al [9] also described three normal children born to a mother with mild hypertyrosinaemia, while Hyanek et al [16] documented normal outcome in two pregnancies of a mother with mild tyrosinaemia type II who had minimally elevated plasma tyrosine (232 gmol/1) and a phenylalanine level in the upper normal range (64 ~tmol/1). Infants who have suffered transient neonatal tyrosinaemia have been shown subsequently to have difficulty with a range of psychometric tests [21], although these problems may simply reflect an increased incidence of other pathologies in these infants.…”

Maternal phenylketonuria in pregnancy

“…Some children with PKU may be lost to follow up and, because of the evidence that moderate elevations of Phe in the blood do not cause PKU but are still harmful to the fetus, 24 there is a case for routine screening test in pregnancy. 25 It is also reasonable to consider this in areas with a significant immigrant population from developing countries where neonatal screening for PKU is not routine and hence the mother's PKU status is unknown.…”