Can untreated PKU patients escape from intellectual disability? A systematic review


van Vliet D., van Wegberg A. M. J. , Ahring K., Bik-Multanowski M., Blau N., Bulut F. D. , ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.13, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 13
  • Publication Date: 2018
  • Doi Number: 10.1186/s13023-018-0890-7
  • Title of Journal : ORPHANET JOURNAL OF RARE DISEASES

Abstract

Background: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients.