Maternal phenylketonuria: an international study

Mol Genet Metab. 2000 Sep-Oct;71(1-2):233-9. doi: 10.1006/mgme.2000.3038.


Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Female
  • Heart Defects, Congenital / etiology
  • Humans
  • Infant, Newborn
  • Intelligence
  • Phenylalanine / blood
  • Phenylketonurias / complications*
  • Phenylketonurias / diet therapy
  • Phenylketonurias / psychology
  • Pregnancy
  • Pregnancy Complications / diet therapy*
  • Pregnancy Complications / psychology
  • Pregnancy Outcome


  • Phenylalanine