Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development: Pathological report, survey, clinical application

Robert O. Fisch, Barbara Burke, John Bass, T. Bruce Ferrara, Angeline Mastri

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Maternal phenylketonuria (PKU) is likely to have detrimental effects on embryogenesis and fetal development. Manifestations in the offspring include spontaneous abortion, various congenital malformations, intrauterine growth retardation, and microcephaly. The time at which the metabolic abnormalities induce pathologic embryogenesis can be documented by knowing the time of the development of specifically damaged organ systems. This review reveals that, while the most recognized congenital malformations occur in the heart, the most common abnormality is growth inhibition occurring throughout pregnancy. The organ system most commonly affected by this growth inhibition is the brain, resulting in a high incidence of micrencephaly. It appears that maternal phenylketonuria interferes with appropriate fetal growth and that this effect occurs during the entire course of pregnancy and has no tissue specificity. This information can be both informative to pathologists and useful to clinicians..

Original languageEnglish (US)
Pages (from-to)449-461
Number of pages13
JournalFetal and Pediatric Pathology
Volume5
Issue number3-4
DOIs
StatePublished - Jan 1 1986

Keywords

  • Detrimental embryogenesis
  • Maternal phenylketonuria

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