MATERNAL PHENYLKETONURIA (PKU)

• Maternal PKU is associated with an increased risk of mental retardation and microcephaly.
• There is also a smaller but significant increase in the risk of low birth rate and congenital heart disease.
• There is a higher than normal rate of spontaneous abortion (1).
• A single case of VACTERL association and maternal PKU has been reported (2).

REFERENCES

1. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. N Engl J Med 1980;303:1202.
2. Miller SF, Angtuaco TL, Quirk JG et.al. Anorectal atresia presenting as an abdominopelvic mass. J ULtrasound Med 1990;9:669-672.