Neuropsychological function in mild hyperphenylalaninemia

Am J Ment Retard. 2000 Mar;105(2):69-80. doi: 10.1352/0895-8017(2000)105<0069:NFIMH>2.0.CO;2.

Abstract

Whether specific cognitive deficits related to frontal-lobe dysfunction that have been reported in individuals with phenylketonuria (PKU) are also characteristic of mild hyperphenylalaninemia (MHP) was investigated. Tests of executive function and control tasks not assessing executive function were administered to a group of individuals with MHP and a group without MHP, similar in age, gender, and IQ. Tests of academic skills and behavior-rating questionnaires were also administered to the group with MHP. No group differences were found for any measure, suggesting that the mild elevations of phenylalanine in individuals with MHP are not sufficient to produce behavioral and cognitive impairments characteristic of PKU.

MeSH terms

  • Adolescent
  • Adult
  • Case-Control Studies
  • Child
  • Child Behavior Disorders / blood
  • Child Behavior Disorders / etiology*
  • Cognition*
  • Educational Status
  • Female
  • Humans
  • Intelligence
  • Male
  • Neuropsychological Tests
  • Phenylalanine / blood*
  • Phenylketonurias / blood*
  • Phenylketonurias / psychology*
  • Psychiatric Status Rating Scales

Substances

  • Phenylalanine